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Rare Entity (rare + entity)
Kinds of Rare Entity Selected AbstractsGeranyl acetate esterase is commonly present but linalyl acetate esterase occurrence is highly limited in plantsFLAVOUR AND FRAGRANCE JOURNAL, Issue 3 2007Neelam S. Sangwan Abstract Esterases are a group of hydrolytic enzymes that split ester bonds by addition of water and are ubiquitously present in diverse biosystems. Although animal esterases are well studied and are catalytically and functionally classified into different groups, plant enzymes have been viewed rather generally and are casually recruited as biochemical markers in morphogenesis, genetic characterization of plants, etc., without functional emphasis. Some volatile oil plants constitutively synthesize their characteristic monoterpene esters, geranyl acetate and linalyl acetate being the most common among them in the acyclic monoterpene class, whereas other plants also synthesize some volatile hemi- to sesquiterpene esters but inductively under certain ecological situations, such as herbivory, wounding, etc. This study concerns screening relative distribution of geranyl acetate esterase and linalyl aceate esterase activities in selected medicinal and aromatic plants, and reveals that in plants geranyl acetate (a primary alcohol ester) esterase is commonly present, while linalyl acetate (a tertiary alcohol ester) esterase seems to be highly limited to those plants (e.g. Lippia alba, Mentha citrata) that biosynthesize the tertiary monoterpene alcohol linalool and its ester. Such contrasting distribution of the two discrete types of esterases has been discussed in light of scenario of their microbial counterparts and structure,function relationships established thereon. This study makes it obvious that the GGG(A)-X motif esterases (acting on tertiary alcohol esters) are rare entities in plants too, similar to microbes. Furthermore, their presence in some volatile oil plants renders such plants novel phytoresources of the GGGX/GGAX motif hydrolases. Detailed characterization of the motif-specific plant esterases would have an immense impact on understanding of their structure,function relationships in plants. Copyright © 2007 John Wiley & Sons, Ltd. [source] Response to paclitaxel and carboplatin in metastatic salivary gland cancer: A case report,HEAD & NECK: JOURNAL FOR THE SCIENCES & SPECIALTIES OF THE HEAD AND NECK, Issue 4 2002Janet C. Ruzich DO Abstract Background Malignant tumors of the salivary gland are rare entities that are treated primarily by surgical resection. For patients with recurrent or unresectable disease, options include radiation therapy or chemotherapy; however, responses are few and of short duration. Patients with metastatic disease have been treated with chemotherapy, but, again, response rates have been low and of short duration. Methods A 52-year-old man was seen with a mass on his tongue. A biopsy revealed adenocarcinoma of a minor salivary gland. Ten months after surgical resection, neck dissection, and radiation therapy, the patient was found to have metastatic disease to the lung. Chemotherapy was initiated with carboplatin and paclitaxel. Results The patient obtained a complete response after six cycles of carboplatin and paclitaxel. Conclusions The use of carboplatin and paclitaxel in the setting of metastatic salivary gland cancer is a viable option. © 2002 Wiley Periodicals, Inc. Head Neck 24: 406,410, 2002 [source] Successful Transcatheter Closure of an Aorto-Left Atrial FistulaCONGENITAL HEART DISEASE, Issue 6 2007Malek M. El Yaman MD ABSTRACT Aorto-left atrial fistula is a rare entity in which the integrity of the aortic root bordering the left atrium is disrupted. The clinical presentation is highly variable, depending predominantly on the size of the fistula and the pressure difference between the aorta and the left atrium. Surgical repair was the standard treatment. Recently, however, there have been reports of successful transcatheter closure. We report a 32-year-old male with Shone's syndrome who had multiple prior surgical procedures including aortic and mitral valve replacements. He presented with an aorto-left atrial fistula that was successfully closed percutaneously using an Amplatzer atrial septal defect device. [source] Alveolar soft part sarcoma: a rare entity with unique cytomorphological featuresCYTOPATHOLOGY, Issue 1 2003Sanjay Gupta No abstract is available for this article. [source] Primary Malignant Melanoma of the Maxillary GingivaDERMATOLOGIC SURGERY, Issue 3 2003Betül Gözel Ulusal MD BACKGROUND Mucosal malignant melanoma arising from the mucosa of the head and neck region is a rare entity, accounting for approximately 0.2% of all melanomas. Most of these lesions (80%) have occurred on the maxillary anterior gingival area, especially on the palatal and alveolar mucosa. OBJECTIVE Mucosal malignant melanomas are more aggressive than cutaneous melanomas. On the other hand, complex anatomy of this area makes complete surgical excision difficult. Thus, early diagnosis and treatment are important. METHODS We presented primary malignant melanoma of the maxillary gingiva in two cases. CONCLUSION In mucosal malignant melanoma, survival rates may be increased by early diagnosis and treatment. The clinician must carefully examine oral cavity, and pigmented lesions should be biopsied. Because some melanomas may be amelanotic, a high index of suspicion is necessary. [source] FNA diagnosis of teratoma lung: A case reportDIAGNOSTIC CYTOPATHOLOGY, Issue 10 2010Farhan Asif Siddiqui M.D. Abstract A case of teratoma occurring in the lung of a 27-year-old female, diagnosed by fine-needle aspiration cytology and confirmed by histopathology, is being presented here. Occurrence of teratoma at this site is a rare entity. The authors take this opportunity to report such a rare case, and as to the best of our knowledge, not many cases have been reported in literature till date. Diagn. Cytopathol. 2010;38:758,760. © 2010 Wiley-Liss, Inc. [source] Mixed metaplastic carcinoma of the breast associated with pregnancy: Diagnostic dilemmas in fine-needle aspiration cytologyDIAGNOSTIC CYTOPATHOLOGY, Issue 10 2009Lazaros Skagias M.D. Abstract Metaplastic carcinoma of the breast represents a rare entity characterized by the simultaneous presence of ductal, squamous, and/or mesenchymal components in several proportions. There are limitations in fine-needle aspiration diagnosis due to its pathological heterogeneity. When it develops under pregnancy and lactation influence, the cytologic evaluation appears to be more difficult and accurate diagnosis often proves challenging. We describe a case of mixed metaplastic carcinoma with dominant areas of squamous metaplasia, sarcomatoid stroma with spindle cells, and a minor component of cartilaginous metaplasia. We notify our experience in diagnostic approach of this entity focusing on differential diagnosis. Diagn. Cytopathol. 2009. © 2009 Wiley-Liss, Inc. [source] Cytomorphology of lymphoepithelioma-like carcinoma of the urinary bladder: Report of two casesDIAGNOSTIC CYTOPATHOLOGY, Issue 8 2008Guoping Cai M.D. Abstract Lymphoepithelioma-like carcinoma (LELC) of the urinary bladder is a rare variant of high-grade urothelial carcinoma. Here, we report urine cytologic findings in two cases of this rare entity, the diagnosis of which was confirmed by histopathological examination of the resected tumors. The cytomorphologic features included large tumor cells with high nuclear to cytoplasmic ratios, vesicular chromatin, and prominent nucleoli, presented as single cells or intermixed with inflammatory cells. The differential diagnosis included otherwise typical high-grade urothelial carcinoma, reactive urothelial cells and rarely large cell lymphoma. The rarity of the tumor cells may impose a diagnostic challenge in urine specimen. Diagn. Cytopathol. 2008; 36: 600,603. © 2008 Wiley-Liss, Inc. [source] Mirizzi syndrome Type IV: A rare entityDIGESTIVE ENDOSCOPY, Issue 4 2003Everson Luiz De Almeida Artifon Mirizzi's syndrome, characterized by obstructive jaundice due to an extrinsic compression of common hepatic duct by an impacted gallstone in the cystic duct or the neck of the gallbladder, is a rare complication of gallstone disease. The present case describes Mirizzi's syndrome classified as Type IV in a 50-year-old man with obstructive jaundice. Abdominal computed tomography scan demonstrated a dilated intrahepatic biliary tree and a tumoral mass at the porta hepatis, suggesting cholangiocarcinoma. Endoscopic retrograde cholangiopancreatography also suggested cholangiocarcinoma involving the entire circumference of the common hepatic duct in porta hepatis. The diagnosis of Mirizzi's syndrome Type IV was confirmed during cholecystectomy, withdrawal of gallstone and Roux-en-Y hepaticojejunostomy. [source] Possible Paradoxical Embolism as a Rare Cause for an Acute Myocardial InfarctionECHOCARDIOGRAPHY, Issue 5 2006Aleksandr Rovner M.D. Paradoxical embolus is a rare entity and it has been incriminated as a cause of both cryptogenic strokes and myocardial infarctions (MI). Herein, we present a case of a patient diagnosed with a pulmonary embolism 1 week prior who now presented with an acute MI. Subsequent evaluation revealed a patent foramen ovale and a large thrombus in the right pulmonary artery. It was presumed that the etiology of her infarct was due to paradoxical embolus. The management of the patient is discussed and the literature is reviewed. [source] Case report of bilateral inflammatory breast cancerEUROPEAN JOURNAL OF CANCER CARE, Issue 4 2010Y.A. MASANNAT mrcsi, mrcsed, research fellow breast surgery MASANNAT Y.A., PETER M., TURTON P. & SHAABAN A.M. (2010) European Journal of Cancer Care Case report of bilateral inflammatory breast cancer Inflammatory breast cancer (IBC) is a rare entity that makes up 1,3% of breast cancers. As the diagnosis of IBC is mainly clinical, for the inexperienced the clinical appearance can mimic mastitis leading to diagnostic delay and it is often associated with a poor prognosis. Very few cases of bilateral IBC are reported in the literature, all of which have been synchronous. We report an unusual case of bilateral metachronous IBC each with complete clinico-pathological response after treatment with neoadjuvant chemotherapy and surgery on both occasions. [source] Mycoplasma pneumoniae -associated myelitis: a comprehensive reviewEUROPEAN JOURNAL OF NEUROLOGY, Issue 2 2006S. Tsiodras Myelitis is one of the most severe central nervous system complications seen in association with Mycoplasma pneumoniae infections and both acute transverse myelitis (ATM) as well as acute disseminated encephalomyelitis (ADEM) have been observed. We reviewed all available literature on cases of Mycoplasma spp. associated ATM as well as ADEM with dominant spinal cord pathology and classified those cases according to the strength of evidence implicating M. pneumoniae as the cause. A wide range of data on diagnosis, epidemiology, immunopathogenesis, clinical picture, laboratory diagnosis, neuroimaging and treatment for this rare entity is presented. The use of highly sensitive and specific molecular diagnostic techniques may assist in clearly elucidating the role of M. pneumoniae in ATM/ADEM syndromes in the near future. Immunomodulating therapies may have a role in treating such cases. [source] Angiofibroma of the larynx: Report of a case with clinical and pathologic literature review,HEAD & NECK: JOURNAL FOR THE SCIENCES & SPECIALTIES OF THE HEAD AND NECK, Issue 8 2002Matthew H. Steele MD Abstract Background Angiofibromas are uncommon vascular tumors with a strong predilection for the nasopharynx of adolescent males. Although they are slow growing and histologically benign, they have the potential to cause significant morbidity with laryngeal involvement. Methods We describe the clinical characteristics, histopathologic findings, differential diagnosis, preoperative evaluation, and management of a case of laryngeal angiofibroma. Results The patient was initially seen with a 2˝-year history of progressive dyspnea and dysphagia. Preoperative evaluation suggested a vascular mass involving the left supraglottic larynx. A partial laryngopharyngectomy was performed without complication. The patient is alive and disease free 3 years postoperatively. Final histopathologic diagnosis is consistent with angiofibroma. Conclusions Laryngeal angiofibroma is an extremely rare entity. Adequate preoperative imaging is necessary to confirm the vascularity of this lesion, because ill-planned biopsy may lead to significant blood loss. The role of preoperative embolization of other laryngeal vascular lesions has been well documented and may be useful in the management of laryngeal angiofibroma. © 2002 Wiley Periodicals, Inc. Head Neck 24: 805,809, 2002 [source] Nicolau Syndrome: three cases and reviewINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 11 2006Kelli Luton MD Nicolau Syndrome, also known as livedo-like dermatitis (LLD) or embolia cutis medicamentosa (ECM), is an infrequent complication following intramuscular and intra-articular injection of various drugs. This rare entity is characterized by severe pain and erythematous-ecchymotic reticular lesions at the injection site, which in many cases lead to necrotic ulcers and scarring. We report three cases of Nicolau Syndrome following injection of diclofenac, penicillin G, and cyanocobalamin. [source] Acute gastric dilatation causing bacterial cerebral aneurysm,Case reportINTERNATIONAL JOURNAL OF EATING DISORDERS, Issue 4 2008Takeshi Matsuyama MD Abstract Objective: Acute gastric dilatation (AGD) is a very rare entity which can sometimes be life-threatening. We report a case of a patient presenting with a rupture of a BCA during the treatment of AGD. Method: A 24-year-old woman, who had a history of bulimia and vomiting episodes, was transferred in shock with marked abdominal distension. A large nasogastric tube was inserted, and 9 liters of viscous gastric contents were drained out. Her circulation became stable. Results: About 3 months after admission, she became drowsy and presented with a right hemiparesis and aphasia. Computed tomography of the head showed a diffuse thick subarachnoid hemorrhage. Left carotid angiograms revealed an obscurely-shaped aneurysm in the left middle cerebral artery. Conclusion: Trapping of the aneurysm was performed. Thirty-four days after admission, the patient had a residual right hemiparesis and motor aphasia, and was discharged. © 2008 by Wiley Periodicals, Inc. Int J Eat Disord 2008 [source] Treatment of adult female epispadias without exstrophy in the presence of rhabdosphincter functionINTERNATIONAL JOURNAL OF UROLOGY, Issue 3 2006ALEXANDRE E. PELZER Abstract, Female epispadias without exstrophy is a very rare entity. Symptoms of female epispadias are primary urinary incontinence and anatomical abnormal features. A 24-year-old married women with two children presented with primary urinary incontinence. Due to previous failure of correct diagnosis and ineffective medical treatment, the patient developed psychological problems (anxiety and depression). In the presence of minimal rhabdosphincter function we could achieve socially acceptable urinary continence by bladder neck plication and a Burch colposuspension. The patient did not consent to a major reconstruction. [source] Inflammatory pseudotumor of the testis: A novel presentation of acute retroviral syndromeINTERNATIONAL JOURNAL OF UROLOGY, Issue 4 2005NEEMA NAVAI Abstract Inflammatory pseudotumors are a rare entity, the etiology of which is not well understood. It has been postulated that these non-neoplastic lesions are the result of a reaction to trauma, surgery, infection or local irritation, though in many cases an underlying cause is never found. In this case, a 30-year-old man with previously undiagnosed human immunodeficiency virus presented with a 2-week history of painless right testicular mass measuring 1 × 1 cm. The patient underwent right radical orchiectomy with histopathological analysis revealing an inflammatory pseudotumor of the testis. Further work up pointed to acute retroviral syndrome as the likely cause. [source] Uterus-like mass: MRI appearance of a very rare entityJOURNAL OF MAGNETIC RESONANCE IMAGING, Issue 1 2007Kirsten A. Menn BA Abstract We describe a 37-year-old patient who presented with right lower quadrant pain and intermenstrual bleeding. MRI demonstrated a 5 × 5 cm lobulated mass centered in the right uterine wall interpreted as suspicious for malignancy. A total hysterectomy was performed, and the gross and histologic features were consistent with the diagnosis of a uterus-like mass. Uterus-like mass is a benign entity that can be found in a variety of organs, and is characterized by endometrium surrounded by smooth muscle. It is an extremely rare lesion with only approximately 15 cases reported in the current literature. There is a lack of imaging literature on this entity, which is primarily described in the pathology literature. Its histogenesis is uncertain, but is theorized to be metaplastic change, congenital anomaly, and/or heterotopia. However, given the MRI appearance in this case, we feel that uterus-like mass could be prospectively diagnosed or listed in a differential diagnosis. J. Magn. Reson. Imaging 2007;26:162,164. © 2007 Wiley-Liss, Inc. [source] MR findings of primary Ewing's sarcoma of greater wing of sphenoidJOURNAL OF MEDICAL IMAGING AND RADIATION ONCOLOGY, Issue 4 2002Paramjeet Singh Summary Primary Ewing's sarcoma of the skull is a very rare entity. We report MRI findings in a case of Ewing's sarcoma of the greater wing of sphenoid in a 4-year-old patient. Magnetic resonance imaging showed markedly heterogenous signal intensity with areas of haemorrhage and necrosis. It also demonstrated the exact extent of tumour due to its multiplanar capabilities and was, therefore, helpful in planning surgery. [source] Recurrent Kikuchi,Fujimoto disease during pregnancy: Report of case evolving into systemic lupus erythematosus and review of published workJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 4pt2 2008Jaume Alijotas-Reig Abstract Kikuchi,Fujimoto disease (KFD) is a distinctive, benign type of necrotizing lymphadenitis. KFD is a rare entity, especially during pregnancy. Although first described in Japan, subsequently it has been reported in the West. We communicate herein a case of KFD in African women with bouts during pregnancy. Diagnosis was difficult because peripheral enlarged lymph nodes were absent and an extended differential diagnosis and adequate work-up was necessary. The patient suffered a miscarriage coinciding with a KFD bout. Further pregnancies were uneventful. Follow up showed that KFD evolved into a systemic lupus erythematosus-like syndrome. [source] Psoriasis of the lips: a rare entityJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 1 2007S Ersoy-Evans [source] Malignant solitary fibrous tumor arising from the pineal region: case study and literature reviewNEUROPATHOLOGY, Issue 3 2010Jing Zhang We report a case of malignant solitary fibrous tumor involving the pineal region in a 49-year-old woman. The patient presented with headache, slowly progressive weakness of the right lower extremities and upgaze palsy over the past year. Histologically, the tumor was composed of moderately hypercellular proliferated spindle cells with eosinophilic collagen bands. These cells were diffusely and strongly immunoreactive with CD34, CD99, and vimentin, but were negative with epithelial membrane antigen, S-100 protein, Bcl-2, smooth muscle actin, cytokeratin and glial fibrillary antigenic protein. MIB-1 labeling indices and mitosis rates were 7.3 ± 1.8% and 5 per 10 high power fields, respectively. Ultrastructural examination revealed that the neoplastic cells had features of fibroblastic differentiation. Differential diagnoses included fibrous meningioma and hemangiopericytoma. The present case provides one unique example of a rare entity to the already diverse spectrum of the pineal region neoplasms encountered in neuropathology. [source] Clear cell ependymoma: a mimicker of oligodendroglioma , report of three casesNEUROPATHOLOGY, Issue 4 2008Deepali Jain Clear cell variant of ependymoma is a rare entity which morphologically mimics oligodendroglioma and poses a diagnostic dilemma. We describe three cases of clear cell ependymoma in male children which were supratentorial in location. On microscopic examination, these tumors were composed of sheets of clear cells and resembled oligodendroglioma. Electron microscopy confirmed the ependymal nature of these tumors. Clear cell ependymomas are rare and aggressive tumors. More cases need to be reported to determine their therapeutic responsiveness and prognosis. [source] Gliosarcoma with chondroid and osseous differentiationNEUROPATHOLOGY, Issue 1 2007Jens Schittenhelm We present the case of a 65-year-old woman with a short-term history of cognitive decline and neuropsychiatric symptoms. Neuroradiological examinations revealed a large left temporo-occipital cystic and calcified tumor mass measuring 6 cm in diameter, which was suspicious for an oligodendroglioma or a choroid plexus carcinoma. Neuropathological investigations finally revealed a gliosarcoma with extensive mesenchymal differentiation. The tumor demonstrated a biphasic pattern consisting of focal anaplastic glial components with vascular proliferation and necrosis. Adjacent sarcomatous tissue displayed pleomorphic fibroblastic cells surrounding metaplastic cartilage and osseous formation. Accounting for only approximately 2% of glioblastomas, gliosarcomas represent a rare entity of intrinsic CNS neoplasms. Exceedingly rare, the mesenchymal part of the gliosarcoma undergoes metaplastic transformation. Interestingly, in our case, the tumor exhibited features of both cartilaginous and osseous differentiation and multifocally showed a sharp transformation zone between highly malignant gliosarcomatous tumor areas and well-differentiated non-proliferative metaplastic regions. [source] Epidural haemorrhage of the cervical spinal cord: a post-mortem artefact?NEUROPATHOLOGY & APPLIED NEUROBIOLOGY, Issue 3 2005G. N. Rutty Spinal epidural haemorrhage is a rare entity that occurs uncommonly in adults and rarely in children. It has a typical clinical presentation, although to date, the cause for the majority of cases remains unknown. We present a series of cases where epidural haemorrhage was identified at post-mortem, principly to the cervical cord, in cases outside the age range usually reported for clinical epidural haemorrhage, and with no underlying pathology to account for the finding. We present a hypothesis for a post-mortem cause for this finding and consider that, in the absence of any other identifiable causation, then this is a post-mortem occurrence similar to that of the Prinsloo,Gordon artefact of the soft tissues of the neck. This finding must be interpreted with care so as not to make the mistaken diagnosis of a nonaccidental head injury based on its finding, especially in the absence of intracranial, cranial nerve, optic nerve or eye pathologies. [source] Cervico-facial necrotizing fasciitisORAL DISEASES, Issue 2 2009R Ord Necrotizing fasciitis of the cervical facial region is a rare entity that has seen an increasing prevalence in the last 20 years. It is most common in patients with an underlying systemic disease leading to immunosuppression, but can be seen in healthy adults and children. It is characterized by soft tissue destruction which is disproportionate to its clinical symptoms and signs, with rapid progression and fatal outcome, if not treated rapidly and radically. We present a review of the etio-pathogenesis and management of this challenging disease. [source] Segmental testicular infarction due to cholesterol embolism: Not the first case, but the first reportPATHOLOGY INTERNATIONAL, Issue 11 2008Shiro Adachi Segmental infarction of the testis represents a rare entity in that there have been fewer than 40 cases documented in the literature. Like global infarction, segmental infarction of the testis can masquerade as a mass lesion or torsion of the testis. Reported herein is a very rare case of segmental testicular infarction due to atheroembolism in a 58-year-old man. The patient presented with severe left testicular pain and underwent left high orchiectomy on the clinical diagnosis of testicular torsion. The testis had a segmental hemorrhagic necrosis around which many cholesterol emboli were observed. This is the first report to describe cholesterol embolism-associated segmental testicular infarction. [source] Pulmonary Tuberculosis and Cutaneous Mycobacterial Infection in a Patient with Incontinentia PigmentiPEDIATRIC DERMATOLOGY, Issue 6 2004Nilgün Senturk M.D. Lupus vulgaris following bacille Calmette-Guérin (BCG) vaccination is a rare entity. Incontinentia pigmenti is an X-linked dominant genodermatosis in which vesicular, verrucous, and pigmented lesions are associated with various developmental defects. There is evidence of altered immunologic reactivity in some patients with incontinentia pigmenti. A 12-year-old girl hospitalized for pulmonary tuberculosis presented with bizarre-shaped brown macules following Blaschko lines on the left deltoid area, compatible with incontinentia pigmenti, which had appeared following BCG vaccination at the age of 7 years. Histopathologic examination found noncaseated granulomas in the dermis. Antituberculous treatment for pulmonary and cutaneous tuberculosis was initiated along with genetic counseling. Immunologic abnormalities have been reported in conjunction with incontinentia pigmenti. Simultaneous occurrence of pulmonary and cutaneous tuberculosis in our patient might be either coincidental or indicate derangements in the cellular immune system. [source] Ichthyosis Follicularis: A Case Report and Review of the LiteraturePEDIATRIC DERMATOLOGY, Issue 1 2003Abdullah Alfadley M.D., F.R.C.P.(C.) This report describes a child with facial dysmorphism, mental retardation, psychomotor delay, congenital alopecia of the scalp, eyebrows, and eyelashes, and extensive spiny follicular papules. A skin biopsy specimen showed the characteristic absence of sebaceous glands. We also reviewed the literature on this very rare entity. Additional findings observed in our patient, including hepatosplenomegaly, undescended testicles, and ptosis, have not been reported before. [source] Early pulmonary involvement in Niemann-Pick type B disease: Lung lavage is not usefulPEDIATRIC PULMONOLOGY, Issue 2 2005Z.S. Uyan MD Abstract Niemann-Pick disease (NPD) is a rare, autosomal-recessively inherited lipid storage disease which is characterized by intracellular deposition of sphingomyelin in various body tissues. The disease is heterogeneous and classified into six groups. Pulmonary parenchymal involvement may be a feature of several subtypes of NPD, including type B. Progressive pulmonary involvement in NPD type B is a major cause of morbidity and mortality. It is usually diagnosed at older ages. Only a few cases with early pulmonary involvement have been reported. In this report, a patient with NPD type B, hospitalized with the diagnosis of pneumonia at age 3 months, is presented. Following treatment for pneumonia, she continued to have persistent respiratory symptoms and became oxygen-dependent. High-resolution computed tomography of the chest revealed diffuse interstitial changes. During follow-up, the patient developed hepatosplenomegaly. Lung, liver, and bone marrow biopsies showed characteristic findings for NPD. Biochemical studies also confirmed the diagnosis, and the sphingomyelinase enzyme level of the patient was low. Unilateral lung lavage was performed in order to decrease lipid storage as a treatment modality. However, there was no clinical or radiological improvement. The patient died at age 15 months due to progressive respiratory failure. Pulmonary involvement is a rare entity in early childhood in patients with NPD type B, but should be considered in the differential diagnosis of persistent interstitial lung disease. It may cause progressive respiratory failure, but the treatment options remain limited. Pediatr Pulmonol. 2005; 40:169,172. © 2005 Wiley-Liss, Inc. [source] | |||||||||||||||||||||||||||||||||||||