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Deficiency Presenting (deficiency + presenting)
Selected AbstractsHolocarboxylase Synthetase Deficiency Presenting as IchthyosisPEDIATRIC DERMATOLOGY, Issue 2 2006H. Alan Arbuckle M.D. Clinical manifestations usually present within the first few days of life and include severe acidosis, feeding difficulties, breathing abnormalities, vomiting, seizures, progressive loss of consciousness, coma, and death. Skin findings, when present, usually develop within the first weeks of life and are described as an erythroderma-like dermatitis involving the eyebrows, eyelashes, and scalp. We were asked to consult on a newborn with a collodion membrane and severe metabolic acidosis who was eventually diagnosed with holocarboxylase synthetase deficiency and ichthyosis. The diagnosis of holocarboxylase synthetase deficiency might be considered in a newborn with collodion membrane, ichthyosis, and acidosis. [source] Pyruvate dehydrogenase deficiency presenting as dystonia in childhoodDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 10 2004R A Head MA Two individuals with pyruvate dehydrogenase (PDH) deficiency due to missense mutations in the gene for the E1, subunit (PDHA1) presented during childhood with dystonia. The first patient, a male, presented at age 4 years with dystonia affecting the lower limbs, which responded to treatment with combined carbidopa and levodopa. The second patient, a female, was first investigated at age 6 years because of a dystonic gait disorder. In both patients, the main clue to the biochemical diagnosis was a raised concentration of lactate in the cerebrospinal fluid. PDH activity was significantly reduced in cultured fibroblasts in both cases. Dystonia is a previously unrecognized major manifestation of PDH deficiency and is of particular interest as the mutations in the PDHA1 gene in these patients have both been identified previously in individuals with typical presentations of the condition. [source] Cytochrome oxidase deficiency presenting as birth asphyxiaDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 6 2000Tracey A Willis MRCPI Hypoxic-ischaemic encephalopathy (HIE) was diagnosed in an infant with acidosis. At 7 weeks of age further investigations revealed abnormal neuroimaging (CT and MRI scans) and a raised plasma and CSF lactate. A skeletal-muscle biopsy at 2 months of age confirmed the diagnosis of cytochrome oxidase deficiency. The course of the patient's disorder has taken that of a static encephalopathy (cerebral palsy). Inborn disorders of the respiratory chain should be considered in the differential diagnosis of HIE. [source] "Whippets"-Induced Cobalamin Deficiency Manifesting as Cervical MyelopathyJOURNAL OF NEUROIMAGING, Issue 3 2004Alan L. Diamond ABSTRACT Background. Nitrous oxide (N O) is inhaled in anesthesia and as a recreational drug from whipped cream dispensers. Its abuse reaches ,10% in some age groups. By inactivating cobalamin (Cbl) (vitamin B12), N O can cause neurologic and hematologic manifestations. We present a case of N O-induced Cbl deficiency presenting as cervical myelopathy. Case History. After regularly inhaling N O for many months, a 31-year-old man developed limb paresthesiae and ataxia over 3 months. Examination revealed finger pseudoathetosis, hyporeflexia, decreased sensation, and gait ataxia. Brain magnetic resonance imaging (MRI) was normal, but the posterior columns of the cervical and upper thoracic cord revealed patchy nonenhancing hyperintense lesions. Serum Cbl was 98 pg/mL (normal = 170,900 pg/mL). Cbl replacement led to recovery within 3 months.Discussion. This patient presented with the symptoms and signs of Cbl deficiency. The MRI lesions in the posterior columns aided the diagnosis. Physicians need to have a high level of suspicion in cases of unexplained Cbl deficiency and myelopathy. [source] | ||||||||||