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)

We are describing two male siblings with proximal renal tubular insufficiency, cholestatic jaundice, predisposition to infection, and multiple congenital anomalies. These patients presented in the early neonatal period with micrognathia, low set ears, high arched palate, barrel shaped chest, bilateral simian creases, club feet, congenital hip dislocation, hypotonia, conjugated hyperbilirubinemia, repeated infections, and severe failure to thrive. They died at the age of 2 and of 4 months despite medical therapy. Findings of renal tubular insufficiency included persistent renal tubular acidosis, glucosuria, phosphaturia, aminoaciduria, and mild proteinuria. Kidney biopsy, liver biopsy, and a comprehensive immunologic investigation were performed on the first sibling. Kidney histology was normal except for calcification of some distal tubules. Liver biopsy revealed paucity of bile ducts, bile stasis, and some inflammatory cell infiltration. Immunologic investigation suggested a defect in polymorphonuclear cell migration and intracellular killing. Review of the literature revealed remarkably similar findings in two previously reported male siblings. These four cases probably represent a previously unrecognized familial syndrome. The possible etiology and mode of inheritance of this syndrome are discussed, and the association of hepatic and renal tubular dysfunction is reviewed.
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PMID:Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies--a new multisystem syndrome. 654 56

The Lowe syndrome, or oculocerebrorenal syndrome, is a rare X-linked recessive hereditary disease which typically involves three major systems including ocular defects (congenital cataracts, glaucoma, searching nystagmus), central nervous system defects (generalized hypotonia with decreased or absent deep tendon reflex and severe mental retardation), and renal dysfunction (progressive renal tubular dysfunction with acidosis and hyperaminoaciduria). Less than 200 cases have been reported in the English literatures since 1952. This article presents the first case of Lowe syndrome in Taiwan. Patient was a newborn who was born with congenital cataracts, glaucoma, generalized hypotonia with areflexia. In following laboratory studies showed early manifestations of renal tubular dysfunction with metabolic acidosis, proteinuria, glycosuria, phosphaturia and generalized hyperaminoaciduria (19 types). CT of brain showed an arachnoid cyst about 4.5 x 5 cm in size below the cerebellar tentorium. Large amount of copper, about 20-30 times above normal range, was detected in the urine. To our knowledge, Lowe syndrome associated with hypercupriuria and arachnoid cyst has not been reported in the past. Whether hypercupriuria is a part of the entity of this disease or prodromal stage of Wilson's disease is obscure. Further investigation and long-term observation are necessary to draw any conclusion.
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PMID:[Lowe syndrome: report of one case]. 833 87