Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Niemann-Pick disease, type C, was diagnosed in a 3-month-old boy with hepatosplenomegaly, mild signs of cholestasis, hepatic inflammation and extramedullary erythropoiesis, together with chronic airway disease. He developed muscular hypotonia, psychomotor retardation, rickets, and signs of peripheral neuropathy. The patient was found to excrete abnormal amounts of unusual bile acids in urine at 3 and 5 months of age. These acids were shown to have a 3beta-hydroxy-Delta(5) structure and to carry an oxo or hydroxy group at C-7. They were sulfated at C-3 and nonamidated or conjugated with glycine or taurine at C-24. Part of the 7-hydroxy acids, presumably the 7beta-hydroxylated one, was also conjugated with N-acetylhexosamine, probably N-acetylglucosamine, at the 7-hydroxy group. Possible metabolic pathways for the formation of the 7-oxo and 7beta-hydroxycholenoic acids are discussed. Based on previous data concerning the effects of 3beta-hydroxy-Delta(5) bile acids on bile acid transport, it is suggested that the formation of such bile acids is responsible for the cholestasis in this patient.
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PMID:Identification of unusual 7-oxygenated bile acid sulfates in a patient with Niemann-Pick disease, type C. 1159 Feb 12

The author's aim in reporting this case is to extend awareness of the importance of management of associated hydrocephalus among patients with syringomyelia to the posttraumatic state. A full-term infant was delivered by cesarean section because of transverse lie. In the 2nd week of life, hypotonia affecting the lower limbs and the left upper limb was recognized. On MR imaging, posterior fossa subdural hemorrhage and spinal cord injury at the T-1 and T-2 levels were evident. Sequential imaging studies demonstrated progressive myelomalacic changes in the cervical spinal cord and eventual development of syrinx cavities as far cephalad as C-3. Hydrocephalus developed simultaneously as well. A ventriculoperitoneal cerebrospinal fluid shunt was inserted at 22 months of age. Six months after shunt insertion, MR imaging demonstrated regression of the posttraumatic syringomyelia. The patient was stable from an imaging standpoint at 16 months after shunt insertion, and she has continued to make developmental progress. The importance of treatment of associated hydrocephalus is widely recognized in the management of syringomyelia associated with the Chiari malformations. It should be considered in the management of posttraumatic syringomyelia as well.
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PMID:Progressive syringomyelia controlled by treatment of associated hydrocephalus in an infant with birth injury. Case report. 1637 Feb 92