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)

Two patients with trisomy 11p15 and features of Beckwith-Wiedemann syndrome are reported. The first is a female infant with gigantism, macroglossia, abdominal hypotonia with umbilical hernia, moderate mental retardation, malformative uropathy, and atrial septal defect. Trisomy 11p15 was due to de novo duplication. The second patient was a stillborn (32-33 weeks pregnancy) with an abnormal tongue, posterior diaphragmatic eventration, inner organ congestion mainly of the adrenals. Trisomy 11p15 was due to a t(4;11)(q33;p14)pat. The association of trisomy 11p15 and Beckwith-Wiedemann syndrome is discussed with regard to cytogenetic data and the gene content of 11p, notably the genes coding for insulin and predisposition to Wilms tumour.
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PMID:Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases. 674 43

We report the first familial cases with two different types of posterior fossa cystic malformation and a leukodystrophic-like aspect on cerebral magnetic resonance imaging (MRI). The girl and her brother had severe encephalopathy, marked hypotonia, absent deep tendon reflexes, macrocrania, gigantism, and dysmorphic face and extremities. The girl had generalized seizures. The boy had unilateral cataract and bilateral optic atrophy. The parents were first cousins, suggesting autosomal recessive transmission. MRI showed Dandy-Walker variant in the girl, with cerebellar vermis hypoplasia and expansion of the cisterna magna, which communicated with the fourth ventricle. Her brother had mega cisterna magna communicating with the fourth ventricle and a normal cerebellum. The 2 children had abnormally high signal in the supratentorial white matter. Visual and auditory evoked potentials revealed prolonged latencies. Motor and sensory conduction velocities were normal. Muscle and nerve biopsies were normal. Metabolic exploration demonstrated no abnormality.
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PMID:Familial Dandy-Walker malformation and leukodystrophy. 925 68

Perlman syndrome is a rare entity characterized by hypotonia, facial dysmorphism, gigantism, and visceromegaly including nephromegaly. The current case illustrates the ultrasonographic and computed tomographic appearances of renal abnormalities in this condition. Findings in Perlman syndrome can overlap with and need to be distinguished from two more common clinical entities: prune-belly and Beckwith-Wiedemann syndromes. Additional cranial findings previously unreported are also described.
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PMID:Perlman syndrome: a case report emphasizing its similarity to and distinction from Beckwith-Wiedemann and prune-belly syndromes. 956 41

We report on a neonate presenting with polyhydramnios; macrosomia; macrocephaly; visceromegaly including bilateral nephromegaly, hepatomegaly, cardiomegaly; thymus hyperplasia; cryptorchidism; generalized muscle hypotonia; and a distinctive facial appearance. The clinical course was marked by severe neurodevelopmental deficits combined with progressive respiratory decompensation leading to death at the age 6 months. Magnetic resonance imaging (MRI) disclosed a generalized cerebral atrophy with a marked deficit of the white matter. Renal ultrasound and MRI showed markedly enlarged kidneys with multiple small cystic lesions, a pattern indistinguishable from polycystic kidney disease. The postmortem kidney biopsy revealed dysplastic changes, microcysts, and a focal nephrogenic rest, characteristic features of the Perlman syndrome. In children with fetal gigantism, renal abnormalities, and neurological deficits, Perlman syndrome should be considered and may be confirmed by kidney biopsy.
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PMID:A case of Perlman syndrome: fetal gigantism, renal dysplasia, and severe neurological deficits. 1075 Oct 85

Giant intradural metastases of nonneurogenic origin involving multiple segments represent an extremely rare manifestation of an unknown primary. The respective literature is very scarce. We present a 45-year-old female with complaints of low back pain for 4 years, involuntary urination for 2 years, and difficulty in using both lower limbs for 1 month. Examination revealed paraparesis with hypotonia. Imaging of lumbosacral spine revealed that expansile lytic destruction of vertebral bodies and posterior elements was noted from D8 to S2 vertebra and a large-sized patchy enhancing heterogeneous intradural extramedullary lesion was noted in D8-S2 level. Decompressive laminectomy from D11 to L4 vertebra and subtotal excision of the lesion were done. There was a marked improvement in the lower limb weakness and low back pain postoperatively. Histopathology revealed metastatic adenocarcinoma. Immunohistochemistry showed epithelial membrane antigen positivity. Accordingly, the aim of the surgery is strictly palliative. The majority of patients benefit with respect to neurological deficit/pain independent of the extent of resection. Thus, decompressive surgery is recommended to increase the quality of life. The occurrence of intradural spinal metastasis is rare. Only few cases of intra dural spinal metastasis involving multiple cord segments and osteolytic bony erosions have been documented. Hence this case is being presented here for its rarity and its uniqueness.
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PMID:Giant Spinal Intradural Metastatic Adenocarcinoma of Unknown Primary: A Rare Case Report. 3149 37