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Rare Form (rare + form)
Selected AbstractsMalnutrition, a Rare Form of Child Abuse: Diagnostic CriteriaJOURNAL OF FORENSIC SCIENCES, Issue 3 2006Marie-Dominique Piercecchi-Marti M.D., Ph.D. ABSTRACT: Infantile malnutrition is often difficult to diagnose as it is rarely observed in industrialized countries. It may be associated with physical violence or occur in isolation. The essential clinical sign is height and weight retardation, but malnutrition also causes a variety of internal and bone lesions, which lead to neuropsychological sequelae and death. We report a rare case of death by malnutrition in a female child aged 6˝ months. The infant presented height and weight growth retardation and internal lesions related to prolonged protein,energy malnutrition (fat and muscle wasting, thymic atrophy, liver steatosis) resulting in a picture of marasmus or kwashiorkor. We detail the positive and negative criteria that established the diagnosis of abuse, whereas the parents had claimed a simple dietary error. [source] Idiopathic Circumscripta Calcinosis Cutis of the KneeDERMATOLOGIC SURGERY, Issue 12 2003FACS, Luigi Valdatta MD Background. Calcinosis cutis, a disease characterized by the presence of calcium deposits in the skin, is classified into four types according to etiology: dystrophic, metastatic, iatrogenic and idiopathic. The dystrophic form is the most common while the idiopathic one is the rarest, but specific incidence and frequency data are not available in scientific literature. Objective. Calcinosis cutis circumscripta is a very rare form of idiopathic calcinosis cutis arising in the second half of life. It typically involves the extremities and is associated with prior trauma and scleroderma. We dealt with a very rare form of calcinosis cutis circumscripta in a healthy patient, for whom surgical excision revealed to be an effective and successful treatment. Methods and materials. We present the case of a 46-year-old woman affected by idiopathic circumscripta calcinosis cutis of the left knee, successfully treated by surgical removal. Discussion. Medical and surgical treatment are options to cure calcinosis cutis. Medical therapy is not very effective. Surgical excision has shown to be beneficial, as it can provide a symptomatic relief. However, since calcinosis cutis limits are not always well defined a recurrence of the lesions may occur. [source] Fine-needle aspiration diagnosis of a metastatic adult sclerosing rhabdomyosarcoma in a lymph nodeDIAGNOSTIC CYTOPATHOLOGY, Issue 10 2010Richard L. Cantley M.D. Abstract Adult sclerosing rhabdomyosarcoma (ASRMS) is a rare variant of rhabdomyosarcoma with a characteristic histological appearance of small, round cells in a dense, hyalinized stroma. Although nodal metastases of soft-tissue sarcomas are considered uncommon, up to 5% overall are associated with lymph node metastases. Nonetheless, there is little literature on the cytologic characteristics of metastatic soft-tissue sarcomas in lymph nodes, and to our knowledge, there are no reports of nodal metastasis of ASRMS diagnosed by fine-needle aspiration (FNA) cytology. We report here a 55-year-old woman who presented with a right thigh mass and associated ipsilateral inguinal lymphadenopathy. Biopsy of the mass revealed a uniform population of small, round cells in a dense, sclerotic background. A diagnosis of ASRMS was rendered. Subsequently, the patient underwent FNA of an enlarged inguinal lymph node, which revealed an identical population of small, round cells in a dense, myxoid background. This case highlights the cytologic features of a rare form of rhabdomyosarcoma, and emphasizes the utility of FNA in the assessment of lymphadenopathy in the setting of a soft-tissue sarcoma. Diagn. Cytopathol. 2010;38:761,764. © 2010 Wiley-Liss, Inc. [source] Prevalence and Characteristics of Left Ventricular Noncompaction in a Community Hospital Cohort of Patients with Systolic DysfunctionECHOCARDIOGRAPHY, Issue 1 2008Roopinder Sandhu M.D. Background: Left ventricular noncompaction (LVNC) is felt to be a rare form of cardiomyopathy, although its prevalence in a nonreferred population is unknown. We examined the prevalence and clinical characteristics of LVNC in a community hospital cohort of adult patients with echocardiographic evidence of left ventricular (LV) systolic dysfunction. Methods: All adult echocardiograms with global LV dysfunction and an LVEF , 45% over a 1-year period were reviewed for signs of LV noncompaction. Its presence was confirmed by the consensus of at least 2/3 readers specifically searching for this using standard criteria for noncompaction. Results: A 3.7% prevalence of definite or probable LVNC was found in those with LVEF, 45% and a 0.26% prevalence for all patients referred for echocardiography during this period. This is appreciably higher than prior reports from tertiary centers. Conclusion: Noncompaction may not be a rare phenomenon and is comparable to other more widely recognized but less common causes of heart failure such as peripartum myopathy, connective tissue diseases, chronic substance abuse and HIV disease. [source] Four New Families with Autosomal Dominant Partial Epilepsy with Auditory Features: Clinical Description and Linkage to Chromosome 10q24EPILEPSIA, Issue 1 2002Melodie R. Winawer Summary: ,Purpose: Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a rare form of nonprogressive lateral temporal lobe epilepsy characterized by partial seizures with auditory disturbances. The gene predisposing to this syndrome was localized to a 10-cM region on chromosome 10q24. We assessed clinical features and linkage evidence in four newly ascertained families with ADPEAF, to refine the clinical phenotype and confirm the genetic localization. Methods: We genotyped 41 individuals at seven microsatellite markers spanning the previously defined 10-cM minimal genetic region. We conducted two-point linkage analysis with the ANALYZE computer package, and multipoint parametric and nonparametric linkage analyses as implemented in GENEHUNTER2. Results: In the four families, the number of individuals with idiopathic epilepsy ranged from three to nine. Epilepsy was focal in all of those with idiopathic epilepsy who could be classified. The proportion with auditory symptoms ranged from 67 to 100%. Other ictal symptoms also were reported; of these, sensory symptoms were most common. Linkage analysis showed a maximum 2-point LOD score of 1.86 at (, = 0.0 for marker D10S603, and a maximum multipoint LOD score of 2.93. Conclusions: These findings provide strong confirmation of linkage of a gene causing ADPEAF to chromosome 10q24. The results suggest that the susceptibility gene has a differential effect on the lateral temporal lobe, thereby producing the characteristic clinical features described here. Molecular studies aimed at the identification of the causative gene are underway. [source] Mixed-lineage eosinophil/basophil crisis in MDS: a rare form of progressionEUROPEAN JOURNAL OF CLINICAL INVESTIGATION, Issue 6 2008F. Wimazal ABSTRACT Background, Basophilic crisis and eosinophilia are well recognized features of advanced chronic myeloid leukaemia. In other myeloid neoplasms, however, transformation with marked basophilia and eosinophilia is considered unusual. Design, We examined the long-term follow-up of 322 patients with de novo myelodysplastic syndromes (MDS) to define the frequency of basophilic, eosinophilic and mixed lineage (basophilic and eosinophilic) transformation. Results, Of all patients, only one developed mixed lineage crisis (, 20% basophils and , 20% eosinophils). In this patient, who initially suffered from chronic myelomonocytic leukaemia, basophils increased to 48% and eosinophils up to 31% at the time of progression. Mixed lineage crisis was not accompanied by an increase in blast cells or organomegaly. The presence of BCR/ABL and other relevant fusion gene products (FIP1L1/PDGFRA, AML1/ETO, PML/RAR,, CBF,/MYH11) were excluded by PCR. Myelomastocytic transformation/myelomastocytic leukaemia and primary mast cell disease were excluded by histology, KIT mutation analysis, electron microscopy and immunophenotyping. Basophils were thus found to be CD123+, CD203c+, BB1+, KIT- cells, and to express a functional IgE-receptor. Among the other patients with MDS examined, 4(1·2%) were found to have marked basophilia (, 20%) and 7(2·1%) were found to have massive eosinophilia ( , 20%), whereas mixed-lineage crisis was detected in none of them. Conclusions, Mixed basophil/eosinophil crisis may develop in patients with MDS but is an extremely rare event. [source] A case of mucormycosis limited to the parotid glandHEAD & NECK: JOURNAL FOR THE SCIENCES & SPECIALTIES OF THE HEAD AND NECK, Issue 12 2005Arun Chandu BDSc, FDSRCS(Eng), MBBS(Hons) Abstract Background. Mucormycosis is a rare fungal infection commonly affecting structures in the head and neck such as air sinuses, orbits, and the brain. Common predisposing factors include diabetes and immunosuppression. To date, only one case of mucormycosis involving the parotid gland has been reported, and this infection was associated with a fatal outcome. Methods. We report a case of parotid gland mucormycosis in a 45-year-old woman with type 2 diabetes, who was successfully treated with a superficial parotidectomy and intravenous amphotericin B. Results. After initial surgical and antifungal therapy, the patient was left with a residual facial nerve palsy for which multiple sling procedures were performed. She is currently alive and well 6 years after the diagnosis of mucormycosis. Conclusions. Mucormycosis of the parotid gland is a rare form of this often-fatal infection. In this case, infection remained isolated to the parotid gland and was diagnosed soon after presentation. The patient most likely survived because of the early diagnosis, successful surgical removal of all infected tissue, use of intravenous amphotericin therapy, and the aggressive management of comorbidities such as her diabetes. © 2005 Wiley Periodicals, Inc. Head Neck27: XXX,XXX, 2005 [source] Intravascular lymphoma: a neoplasm of ,homeless' lymphocytes?HEMATOLOGICAL ONCOLOGY, Issue 3 2006Maurilio Ponzoni Abstract Intravascular lymphoma (IVL) is an extremely rare form of non-Hodgkin lymphoma characterized by almost exclusive growth of neoplastic lymphocytes within blood vessel lumen. IVL is morphologically characterized in most instances by large cells with B-cell lineage. IVL is an aggressive and usually disseminated disease that predominantly affects elderly patients, resulting in poor PS, B-symptoms, anemia, and high lactate dehydrogenase serum level. The brain and skin are the most commonly involved sites; nodal disease is rare. Survival after conventional chemotherapy is disappointing, with a relevant impact of diagnostic delay and lethal complications. Notwithstanding these results, IVL limited to the skin (cutaneous variant) is a favorable presentation with distinctive clinical characteristics. Moreover, differences in clinical presentation with Eastern Countries IVL cases, mostly associated with hemophagocytic syndrome, do exist. Intensive combinations containing drugs with higher central nervous system bioavailability are needed in cases with brain involvement; the role of high-dose chemotherapy with autologous stem cell transplantation should be investigated in younger patients with unfavorable features. The present review will discuss the most recent acquisitions related either to diagnosis and immunophenotypic/biologic characteristics as well as clinical/therapeutic issues of IVL. Copyright © 2006 John Wiley & Sons, Ltd. [source] Combined hepatocellular cholangiocarcinoma originating from hepatic progenitor cells: immunohistochemical and double-fluorescence immunostaining evidenceHISTOPATHOLOGY, Issue 2 2008F Zhang Aims:, Combined hepatocellular cholangiocarcinoma (CHC) is a rare form of primary liver cancer, showing a mixture of hepatocellular and biliary features. Data suggest that most CHC arise from hepatic progenitor cells (HPCs). The aim was to investigate the origin of CHC. Methods and results:, Twelve cases of CHC were studied by immunohistochemistry for hepatocytic (hepPar1, ,-fetoprotein), cholangiocytic cytokeratin [(CK) 7, CK19], hepatic progenitor cell (OV-6), haematopoietic stem cell (c-kit, CD34), as well as CD45 and chromogranin-A markers. The combination of double-fluorescence immunostaining consisted of HepPar1 with CK19, and c-kit with OV-6. All 12 cases demonstrated more or less transitional areas, with strands/trabeculae of small, uniform, oval-shaped cells including scant cytoplasm and hyperchromatic nuclei embedded within a thick, desmoplastic stroma; however, two cases were found to consist entirely of such transitional areas. Simultaneous co-expression of hepPar1 and CK7, or CK19, was demonstrated in 10/12 (83.3%) cases of CHC. c-kit expression was noted in 10/12 (83.3%) cases, of which 7/10 (70%) showed co-expression of OV-6. Conclusions:, The results suggest that CHC are of HPC origin, supporting the concept that human hepatocarcinogenesis may originate from the transformation of HPCs. [source] Squamous cell carcinoma complicating epidermolysis bullosa in a 6-year-old girlINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 7 2009Kanakapura Nanjundaswamy Shivaswamy MD Recessive dystrophic epidermolysis bullosa (RDEB) is a rare form of epidermolysis bullosa (EB) that presents with generalized blistering since birth. Squamous cell carcinoma (SCC) is the most common cutaneous malignancy seen in RDEB, starting from second decade onwards. We report a case of SCC complicating RDEB in a 6-year-old girl. [source] Wade's histoid leprosy: three clinical presentationsINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 9 2007Susana B. Pereyra MD Wade's histoid leprosy is a rare form of multibacillary leprosy with distinctive characteristics which were first described in patients treated with a short course of sulfones. Wade's histoid leprosy may occur as a relapse, in the setting of sulfone resistance, or may present de novo. We report the clinical, histologic, immunologic, and bacteriologic features of three adult male patients with this rare variant of lepromatous leprosy as the initial presentation of the disease, observed in the Dermatology Department of Hospital Córdoba, Córdoba, Argentina between 1999 and 2003. Two of the three patients were from an endemic leprosy area. All patients presented with a number of erythematous to brownish gray, firm but elastic nodules involving mainly the extremities, which responded to treatment for multibacillary leprosy without reactional episodes. [source] The development of cutaneous lesions during follow-up of patients with primary neuritic leprosyINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 3 2005Sujai Suneetha PhD Background, Primary neuritic leprosy (PNL) is a rare form of leprosy where the characteristic skin lesions are absent. Investigations of apparently normal skin from the areas of sensory change have revealed microscopic evidence of nerve involvement. Clinical studies have found that a proportion of patients develop visible skin lesions during follow-up. The aim of the study was to perform a clinical and histological analysis of PNL patients who developed visible skin lesions during treatment and follow-up, to gain insight into the pathogenesis of the disease. Methods, Twenty-nine individuals in a series of 182 PNL patients developed visible skin lesions during follow-up. Analysis of the number, location, histology and time of onset of the new skin lesions in relation to the type and regularity of the treatment regimen were noted. A biopsy from the new skin lesion when available was compared with the nerve biopsy findings at the time of initial diagnosis. Results, Thirty-eight per cent of patients developed a single patch and 28% developed two patches. Over three-quarters of these were on the lower limb (47%) or the upper limb (29%). Sixty-two per cent of patients developed the lesions within 2 years of the onset of symptoms. Patients on regular treatment developed patches earlier than those on irregular treatment or no treatment. A skin biopsy from the new patch revealed borderline tuberculoid leprosy histology in 47% of the patients. Conclusions, The findings suggest that leprosy primarily affects the nerve and that a neuritic phase precedes the development of visible cutaneous lesions. [source] A case of Madelung's deformity in a skeleton from Nuragic SardiniaINTERNATIONAL JOURNAL OF OSTEOARCHAEOLOGY, Issue 3 2002Alessandro Canci Abstract The case reported here refers to the skeletal remains of a mature adult male found in a collective grave known as ,Giant's tomb' located near Donori (Sardinia) and dating to the end of the Bronze Age. The skeleton showed bilateral shortening of the forearm associated to radial bowing, marked deformations at the radio-ulnar distal joints and subsequent posterior dislocation of both ulnae. The whole alterations fit well with a diagnosis of Madelung's deformity, a rare form of mesomelic dysplasia. At present, this case is the most ancient evidence of Madelung's deformity. Copyright © 2002 John Wiley & Sons, Ltd. [source] Antenatal diagnosis of a Morgagni hernia in the second trimesterJOURNAL OF CLINICAL ULTRASOUND, Issue 2 2008Krishan Kumar Jain MD Abstract Morgagni hernia is an uncommon type of congenital hernia that is rarely diagnosed antenatally. Herniation of the liver into the fluid-filled pericardial sac resulting in a thoracic mass is a particularly rare form of Morgagni hernia; only 3 cases have been reported in the literature, all with a diagnosis made at 32 weeks' gestation or later. We report a case of Morgagni hernia diagnosed on antenatal sonography at 24 weeks' gestation. © 2007 Wiley Periodicals, Inc. J Clin Ultrasound, 2008 [source] A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12,12.3 in a Chinese familyJOURNAL OF CUTANEOUS PATHOLOGY, Issue 7 2010Chao Xu Background: Hereditary hypotrichosis simplex (MIM 146520, HHS) is a rare form of nonsyndromic alopecia. The locus for autosomal dominant HHS was mapped to 18p11.32-p11.23 and 6p21.3, respectively, suggestive of genetic heterogeneity. Aim: To identify the disease-causing gene for a four-generation Chinese family with dominant transmission of a form of HHS. The work was carried out at State Key Laboratory of Medical Genomics. Methods: Genome-wide screening was carried out in a Chinese family with HHS using microsatellite markers, and linkage analysis was performed using the MLINK program. Results: The highest two-point logarithm of the odds (LOD) score was obtained with the microsatellite marker D13S217 (LOD score of 4.041 at , = 0.00). After fine mapping and haplotype analysis, we defined a critical region of about 9.57 cM flanked by markers D13S1243 and D13S1299. The disease-causing gene was mapped to 13q12.12,12.3 in this family. Conclusions: A novel locus for HHS maps to chromosome 13q12.12,12.3 in a Chinese family. Xu C, Zhang L, Chen N, Su B, Pan C-M, Li J-Y, Zhang G-W, Liu Z, Sheng Y, Song H-D. A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12,12.3 in a Chinese family. [source] Spontaneous twin cervico-isthmic pregnancy in a grand multiparous womanJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 5 2010Meral Cetin Abstract Cervico-isthmic pregnancy is a rare form of ectopic pregnancy and is defined as the implantation of a fertilized ovum in the cervico-isthmic portion. The cause is unknown; local pathology related to previous cervical or uterine surgery may play a role, given an apparent association with a prior history of curettage or cesarean delivery. Transvaginal ultrasonography and ,-human chorionic gonadotrophin assays are useful for diagnosis. Here we report a case of spontaneous twin cervico-isthmic pregnancy in a grand multiparous patient who was diagnosed early in the first trimester with transvaginal ultrasonography. The pregnancy was terminated successfully with methotrexate. Methotrexate seems to be most successful at early gestational ages. [source] A pure nongestational ovarian choriocarcinoma in a 10-year-old girl: Case report and literature reviewJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 3 2009Bao Kong Abstract Nongestational ovarian choriocarcinoma (NGCO) is a rare form of malignancy, which is difficult to diagnose. We present a case of a 10-year-old girl diagnosed with pure nongestational ovarian choriocarcinoma. This patient responded well to conservative surgery and cisplatin-based regimen chemotherapy. Approximately 38 authenticated cases of NGCO have been reported in the English published work to date in the world. We report here the clinical features, differential diagnosis, appropriate management and outcome of our case, together with analysis of the reported cases in the published work. [source] Three-dimensional ultrasonographic diagnosis and hysteroscopic management of a viable cesarean scar ectopic pregnancyJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 6 2007Sebiha Özkan Abstract Implantation of conception material within a cesarean section scar is an extremely rare form of ectopic pregnancy with devastating complications, such as uterine rupture and intractable bleeding. Both 2-D and 3-D transvaginal ultrasonographic devices are used adequately for precise diagnosis, but there is still a lack of consensus concerning management strategies. No therapeutic modality is suggested to be entirely efficacious and safe for preserving uterine integrity. We present here a 29-year-old woman with vaginal bleeding and a gestational sac with a viable embryo of 6 weeks of age that was implanted in a cesarean section scar. Serum ,-hCG levels were 16 792 mIU/mL. Following an unsuccessful treatment course of systemic methotrexate, the patient underwent operative hysteroscopy. Minimally invasive hysteroscopic resection of the ectopic gestational mass without major complication appears to be an alternative therapeutic approach with minimal morbidity and preservation of future fertility. [source] A case of pulmonary type of ovarian small cell carcinomaJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 2 2007Nao Suzuki Abstract Small cell carcinoma is a rare form of ovarian cancer with a poor prognosis. It is divided into two types, the hypercalcemic and the pulmonary type, of which the latter is extremely rare. A 49-year-old woman presented with an acute abdomen and was suspected to have torsion of a left ovarian tumor, which was followed up with an emergency operation. Postoperative pathological examination gave a diagnosis of the pulmonary type of ovarian small cell carcinoma. Six courses of paclitaxel and carboplatin therapy were given as adjuvant chemotherapy. The patient has survived for 36 months without recurrence. Here we present an extremely rare patient with the pulmonary type of ovarian small cell carcinoma. [source] Primary omental ectopic pregnancyJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 3 2004Wai Chung Wong Abstract Omental ectopic pregnancy is a rare form of ectopic pregnancy. Presented here is a case primary omental ectopic pregnancy according to Studdiford's criteria. This patient presented with epigastric pain and anemia without vaginal bleeding, lower abdominal or pelvic pain. Pregnancy status was confirmed after admission. Transvaginal ultrasound examination revealed intrauterine contraceptive device in situ and a large amount of free peritoneal fluid, but no intrauterine sac or adnexal mass. Laparoscopy was performed but pelvic pathology did not account for the 2500 mL of haemoperitoneum. Laparotomy was carried out and partial omentectomy was performed. [source] Hyperinsulinism and hyperammonaemia syndrome due to a novel missense mutation in the allosteric domain of the Glutamate dehydrogenase 1 geneJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 9 2008Kar-Ki Chik Abstract: Congenital hyperinsulinism is one of the causes of persistent hypoglycaemia in neonates and infants. We describe a one-month-old boy with a rare form of congenital hyperinsulinism characterised by hypoglycaemia and hyperammonaemia. [source] Lupus vulgaris developing at the site of misdiagnosed scrofulodermaJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 3 2003A Motta ABSTRACT Cutaneous tuberculosis is a rare form of extrapulmonary tuberculosis primarily occurring in developing countries. The recent increase in the incidence of tuberculosis, especially due to human immunodeficiency virus (HIV) infections, has led to a resurgence of extrapulmonary forms of this disease. We describe a case of lupus vulgaris in a 33-year-old woman who had a 5-year history of a slowly growing plaque on her neck. The lesion was located at the site of surgery repairing the scar resulting from the incision of a subcutaneous abscess during childhood. This lesion was misdiagnosed as bacterial abscess. Histopathologic examination of the plaque revealed non-caseating tuberculoid granulomas consisting of lymphocytes, epithelioid and giant cells. Staining for acid-fast bacilli and culture from biopsied tissue was negative. Polymerase chain reaction (PCR) for detection of Mycobacterium tuberculosis DNA, performed on a skin biopsy specimen, was positive. A diagnosis of lupus vulgaris developing at the site of a previous misdiagnosed scrofuloderma was made. Conventional antitubercular therapy with rifampicin, isoniazid and ethambutol was administered for 6 months, resulting in resolution of the lesion. [source] Congenital hypomyelination neuropathy in a newborn infant: unusual cause of diaphragmatic and vocal cord paralysesJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 2 2002JS Hahn We report a case of congenital hypomyelination neuropathy presenting at birth. The infant had generalized hypotonia and weakness. There was decreased respiratory effort along with a right phrenic nerve and left vocal cord paralyses. Tongue fasciculations were present. Deep tendon reflexes were absent in the upper extremities and hypoactive (1+) in the lower extremities. Magnetic resonance imaging of the head revealed no intracranial abnormalities, including normal cerebral myelination. Nerve conduction study showed absence of motor and sensory action potentials in the hands when the nerves in the upper limbs were stimulated. A motor response could be elicited only in the proximal leg muscles. Needle electromyography study was normal in the proximal limb muscles, but showed active denervation in the distal muscles of the arm and leg. These findings were thought to be consistent with a length-dependent sensorimotor peripheral polyneuropathy of axonal type with greater denervation of the distal muscles. A biopsy of the quadriceps muscle showed mild variability in fiber diameter, but no group typing or group atrophy. The muscle fibers showed no intrinsic abnormalities. Biopsy of the sural nerve showed scattered axons with very thin myelin sheaths. There was also a nearly complete loss of large diameter myelinated fibers. No onion bulb formations were noted. These findings were thought to be consistent with congenital hypomyelination neuropathy with a component of axonopathy. DNA analysis for identification of previously characterized mutations in the genes MPZ, PMP22, and EGR2 was negative. Several attempts at extubation failed and the infant became increasingly ventilator-dependent with increasing episodes of desaturation and hypercapnea. He also developed increasing weakness and decreased movement of all extremities. He underwent surgery at 2 months of age for placement of a gastrostomy tube and a tracheostomy. He was discharged from the hospital on a ventilator at 6 months of age. The infant was 13 months old at the time of submission of this report. Although he appears cognitively normal, he remains profoundly hypotonic and is on a home ventilator. There was no evidence of progressive weakness. Congenital hypomyelination neuropathy is a rare form of neonatal neuropathy that should be considered in the differential diagnosis of a newborn with profound hypotonia and weakness. It appears to be a heterogeneous disorder with some of the cases being caused by specific genetic mutations. [source] Diffuse central nervous system protoplasmic astrocytoma,PEDIATRIC BLOOD & CANCER, Issue 5 2010ChB Hons, Sue Manley MB Abstract Protoplasmic astrocytoma is an extremely rare form of grade II low grade glioma which usually presents as a discrete mass lesion. We describe a 3-year-old female with diffuse protoplasmic astrocytoma with parenchymal involvement and leptomeningeal spread. This tumour proved extremely difficult to diagnose and followed a progressive course. Three superficial biopsies did not give the diagnosis and this was only confirmed 8 months from presentation from a larger fourth biopsy taken deeper from the cerebellum. To our knowledge this case represents the distinct presentation of protoplasmic astrocytoma presenting as extensive diffuse meningeal disease. Pediatr Blood Cancer 2010;54:768,769. © 2009 Wiley-Liss, Inc. [source] Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctataPRENATAL DIAGNOSIS, Issue 9 2003N. V. Whittock Abstract X-linked dominant chondrodysplasia punctata, (CDPX2,MIM302960) also known as Conradi,Hünermann,Happle syndrome, is a rare form of skeletal dysplasia that affects the skeleton, skin, hair, and eyes. The disorder is caused by mutations within the emopamil binding protein (Ebp) that functions as a delta(8), delta(7) sterol isomerase in the cholesterol biosynthesis pathway. To date, over 40 separate mutations have been reported in the Ebp gene, EBP, with no obvious correlation between the molecular defects and the severity of the clinical phenotype. We have studied a 30-year-old woman who presented in adulthood with skin, hair, and mild skeletal defects but no ocular abnormalities and have identified a heterozygous missense mutation within the third transmembrane domain of the protein. In addition, we have performed molecular prenatal testing on her unborn fetus. The results demonstrate inter-familial variability for missense mutations within the emopamil binding protein and add to the molecular data for CDPX2. Copyright © 2003 John Wiley & Sons, Ltd. [source] ,Fungal soup': Report of two cases of tumour-like blocked pulmonary cavities with liquid content infected with aspergilli, a rare form of pulmonary aspergillosisRESPIROLOGY, Issue 2 2008Chi Fong WONG Abstract: Two cases of a rare and uncommonly described form of Aspergillus lung disease were diagnosed from incidental CXR abnormalities. This strange presentation has been described in the literature as ,tumour-like blocked pulmonary cavities with liquid content infected by aspergilli'. The details of these two cases are reported together with a discussion of the diagnostic features of the disease and its position in the spectrum of pulmonary diseases caused by Aspergillus. [source] Epithelioid sarcoma presenting as pulmonary cysts with cancer antigen 125 expressionRESPIROLOGY, Issue 6 2006Eiki KIKUCHI Abstract: A 39-year-old Japanese woman presented with a swollen right hand and a right-sided pneumothorax. Chest CT revealed bilateral multiple pulmonary thin-walled cysts measuring ,1 cm in diameter and small nodules. An initial skin biopsy led to a misdiagnosis of metastatic adenocarcinoma, as tumour cells were positive for cytokeratin, epithelial membrane antigen, carcinoembryonic antigen and cancer antigen 125. However, chemotherapy proved ineffective, and the skin biopsy was repeated. A final diagnosis of epithelioid sarcoma (ES) was made. Open lung biopsy showed that the pulmonary nodules represented metastases of ES. Although the pulmonary cyst walls did not contain tumour cells, bronchiolar wall adjacent to the cysts had been infiltrated by tumour cells. These findings suggested that pulmonary cysts, a rare form of pulmonary metastases from soft tissue sarcomas, had developed through a ball-valve effect of metastatic tumour in small airways. However, presence of cancer antigen 125 hindered obtaining a correct diagnosis of ES. [source] Cystic Hypersecretory Duct Carcinoma of the BreastTHE BREAST JOURNAL, Issue 4 2000Ajay K. Shah MD, FACS Abstract: We present two cases of a rare form of intraductal carcinoma of the breast, "cystic hypersecretory carcinoma of the breast." The clinical and pathologic characteristics of the lesion are discussed, along with a review of the literature. [source] Subungual melanoma: Histological examination of 50 cases from early stage to bone invasionTHE JOURNAL OF DERMATOLOGY, Issue 11 2008Miki IZUMI ABSTRACT Subungual melanoma is a rare form of malignant melanoma. It is extremely difficult to differentiate it histologically from benign melanonychia striata or melanocytic nevus, especially in the early stage. We divided 50 cases of subungual melanoma into four groups according to clinical progress, and examined their histological findings in each respective stage. In the early stage (19 cases), atypical melanocytes were polygonal showing slight nuclear atypia with no mitoses at all. In six out of 19 cases (31.6%), the atypical melanocytes proliferated more in the hyponychium than in the nail matrix, and only very few in the nail bed. Periungual pigmentation (Hutchinson's sign) appeared from the early stage in almost all cases. With stage progression (middle stage, 13 cases; progressive stage, 13 cases; and bone invasive stage, five cases) the number of atypical melanocytes and their degree of nuclear atypia increased, and the ascent of atypical melanocytes and pagetoid spread became conspicuous. Mitoses became apparent only from the progressive stage. From these observations, we would like to propose three new pathological clues of early stage subungual melanoma: (i) "skip lesion", proliferation of the tumor cells are more prominent in the hyponychium than in the nail bed or nail matrix; (ii) histological confirmation of Hutchinson's sign; and (iii) epithelial thickening and/or compact arrangement of the elongated basal cells. [source] Deradelphous Cephalothoracopagus in KittensANATOMIA, HISTOLOGIA, EMBRYOLOGIA, Issue 5 2009G. Mazzullo Summary Cephalothoracopagus is a very rare form of conjoined twins and is characterized by fusion of heads and thoraxes with two separate spines, limbs and pelves. The aim of this study was to describe a case of female cephalothoracopagus kitten puppy. The most important gross findings involved the external body and some of the internal organs. Radiological features revealed main developmental abnormality of the head, spines and thorax. Authors discuss the pathogenic mechanisms of this condition, infrequently reported in veterinary practice, pointing out the importance of embryonic duplications commonly associated with dystocia. [source] | |||||||||||||||||||||||||||||||||||||