Cases reported "Biotinidase Deficiency"

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1/6. biotinidase deficiency: clinical and MRI findings consistent with myelopathy.

    Spastic paraparesis has been described in children with biotinidase deficiency and onset in later childhood and early adolescence. A 3-year-old male with biotinidase deficiency presented with rash, ataxia, and paraparesis and magnetic resonance imaging findings of myelopathy. Improvement occurred after treatment with biotin. Myelopathy should be added to the features that may be found on clinical examination and neuroimaging of children with biotinidase deficiency, regardless of age of presentation. ( info)

2/6. A case of partial biotinidase deficiency associated with autism.

    We report the case of a child with partial biotinidase deficiency and autistic developmental disorder. We arrived at the diagnosis of biotinidase deficiency when the child was almost 4 years of age. Consequently, he began cofactor biotin treatment (10 mg daily) which did not resolve his autistic behavior. His younger brother was affected by partial biotinidase deficiency diagnosed at birth through our neonatal screening program. He was precociously treated with cofactor biotin therapy (10 mg daily) and did not show any behavioral abnormality or developmental delay. Since the brain is quite vulnerable to biotin deficiency, delayed biotin therapy could result in neurological damage. Our patient is the first case of partial biotinidase deficiency associated with autism. We hypothesize that the low biotinidase activity could have caused biotin deficiency in his brain and cerebrospinal fluids and consequently serious neurological problems, such as stereotyped and autistic behaviors, which were irreversible in spite of biotin supplementation. ( info)

3/6. A boy with spastic paraparesis and dyspnea.

    A 4 1/2-year-old boy with signs and symptoms of spastic paraparesis and dyspnea is presented. biotinidase deficiency was considered and was confirmed by both urine organic acid analysis and biotinidase activity measurement. The child recovered gradually on biotin therapy. Because other systemic signs and symptoms of the disease might not be present initially or might develop later, biotinidase deficiency should be considered in the differential diagnosis of a child presenting with acute or subacute spastic paraparesis. ( info)

4/6. biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result.

    biotinidase deficiency is an inherited metabolic disorder characterized by inability to recycle protein-bound biotin. It usually presents with ataxia and seizures, though atypical presentations have also been described. We report a 15-month-old boy with profound biotinidase deficiency who presented with laryngeal stridor and subsequently developed severe ataxia and lactic acidosis. Subsequently, it was discovered that the patient's newborn screening test for biotinidase activity had been inconclusive, but confirmatory testing had not been done. brain magnetic resonance imaging showed multiple white matter non-enhancing T2 hyperintensities, which largely resolved following 6 months of biotin therapy; however, there was residual deafness and mental retardation. CONCLUSION: An argument is made for universal newborn screening in biotinidase deficiency and improved mechanisms for follow-up of positive screens, because delay in diagnosis results in irreversible morbidity, newborn screening is cost effective, and early therapy prevents the neurologic sequelae. ( info)

5/6. Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.

    Two cases of molecular genetically proven lipoprotein lipase deficiency are reported. Both patients were detected owing to a false-positive neonatal screening test for biotinidase deficiency. We conclude that both the fluorimetric and the colorimetric screening tests for biotinidase deficiency used with dried blood samples are affected by severe hyperchylomicronaemia and that, most probably, severe plasma turbidity interferes with the assay. ( info)

6/6. Successful pregnancy in a treated patient with biotinidase deficiency.

    We report a patient with biotinidase deficiency treated with biotin during pregnancy with favourable outcome. ( info)

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