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)

Heterotopic gastric mucosa in the duodenal bulb is sometimes seen as elevated lesions. Radiological and endoscopic findings in 22 patients are reported, and the characteristic appearance on each study is described. Glucagon-induced hypotonia of the duodenal bulb facilitates the diagnosis.
Radiology 1980 Dec
PMID:Elevated lesions in the duodenal bulb caused by heterotopic gastric mucosa. 744 47

An 18-month-old boy presented with general hypotonia, decreased muscle strength, retarded motor development and stunted growth. The excretion of dicarboxylic acids was enhanced. EMG was normal. A muscle biopsy revealed a lipid storage myopathy. Oral daily supplementation with 2 g D, L-carnitine resulted in: (1) an increase of the growth velocity; (2) increased muscle strength, and (3) a decrease in the lipid fraction of the fibre volume. The carnitine content of the muscle biopsied prior to treatment appeared to be normal.
Eur J Pediatr 1980 Dec
PMID:Successful carnitine treatment in a non-carnitine-deficient lipid storage myopathy. 744 3

Two sporadic cases of tuberous sclerosis presented with flexion spasms in a male and early intractable seizures evolving into a Lennox-Gastaut syndrome in a female. Early hypotonia and lack of substantial motor development are key features of the Rett syndrome, more easily overlooked than hand-wringing. Clumsy self-feeding and immature ambulation were the highest achievements in the second case now aged 36 years. Immaturity rather than degeneration, dementia, or assumed tissue destruction, is the capital feature of many disorders of early brain development leading to profound motor as well as mental retardation. Studying unusual clinical combinations is more likely to shed light on the underlying etiology than focusing on procrustean syndrome definitions.
Am J Med Genet 1993 Dec 15
PMID:Rett syndrome associated with tuberous sclerosis in a male and in a female: evidence for arrested motor and mental development. 751 Sep 33

We report on 2 girls with small de novo terminal deletions of the long arm of chromosome 2 and breakpoints within q37. Four cases with similar or more extensive deletions have been previously reported in full. Hypotonia and psychomotor retardation were the only manifestations common to all 6 cases. The phenotype associated with small terminal 2q deletions is variable and clearly not always as mild as indicated in previous reports. The abnormality may also be more common than has been assumed.
Am J Med Genet 1994 Dec 01
PMID:Small terminal deletions of the long arm of chromosome 2: two new cases. 753 57

A case of mosaic 9p tetrasomy (46,XX/47,XX, + dic[9] [q21]) is reported. Clinical manifestations of the patient were generalized hypotonia, severe mental retardation and characteristic dysmorphic features of 9p tetrasomy. A brief review of the literature is also included.
Acta Paediatr Jpn 1994 Dec
PMID:A case of tetrasomy 9p. 753 95

Lingual motricity was prospectively studied in 32 consecutive stroke patients with hemiparesis or hemiplegia involving the face. We excluded patients with vertebrobasilar infarcts, controlateral stroke, arteriovenous malformations, internal carotid artery dissection, severe aphasia or severe bucco-lingual apraxia. The study population consisted of 18 males and 14 females with a mean age of 64.2 years. Seventeen patients had a lesion located in the right hemisphere and 15 in the left one. The lesion was of ischemic origin in 19 patients and hemorrhagic in 13. Lingual motricity was studied at rest and at protraction. We recorded whether the following abnormalities were present: lingual deviation, limitation of protraction or lateral movements, atrophy, hypotonia and fasciculations. Sixteen patients had a deviation of the tongue at protraction. The other abnormalities were deviation of the tongue at rest, limitation of lateral movements at protraction, unilateral lingual hypotonia and limited protrusion. Of 16 patients with deviation of the tongue at protraction, 10 had no deviation at rest. Of the 6 remainders, 2 had deviation of the tongue towards the opposite side, at rest, and 4 towards the same side. Most patients with deviation of the tongue at protraction, had a lesion of the posterior limb of the internal capsule and of the posterior part of the lenticular nucleus. Most patients without lingual deviation, had a lesion of the capsule-lenticular region and of the superior portion of the internal capsule, just under the corona radiata.(ABSTRACT TRUNCATED AT 250 WORDS)
Rev Neurol (Paris) 1994 Dec
PMID:[Lingual motility in unilateral hemispheric vascular complications. Study of the cortico-hypoglossal afferences]. 767 21

An example of subacute necrotizing encephalopathy, the fifth case in Thailand, was recorded. A 7-month-old boy presented clinically with vomiting, lethargy, respiratory difficulty, deteriorated consciousness, and hypotonia. The CT brain scan disclosed bilateral symmetrical radiolucencies in the basal ganglia, especially the lentiform nuclei, and thalami. Postmortem examination of these areas as well as the periaqueductal region revealed subacute necrotizing encephalopathy. It was characterized by necrosis, gliosis, and status spongiosus of the neuropil with relatively preserved neurons, and hyperplasia of small blood vessels as well as endothelium. As far as we are aware, the vast majority of abnormalities in the basal ganglia visualized by CT brain imaging often show calcific foci or high attenuation with asymmetrical distribution. Bilateral symmetrical lesions of low density are rare. We reported such an abnormality in a postmortem proven case of Leigh's disease. To recognize this finding should lead to correct antemortem diagnosis of the latter.
J Med Assoc Thai 1994 Dec
PMID:Subacute necrotizing encephalopathy (Leigh's disease) in a child with particular reference to CT finding. 775 78

Two brothers with profound neonatal hypotonia and hyporeflexia and electrodiagnostic testing consistent with lower motor neuron pathology were found to have a leukodystrophy. Using single-strand conformational polymorphism analysis and direct sequencing, a mutation within exon 3 of the gene encoding proteolipid protein (Gly73Arg substitution) was previously detected in both brothers and their mother, establishing the diagnosis of Pelizaeus-Merzbacher disease. Despite reported sparing of the peripheral nervous system in Pelizaeus-Merzbacher disease, we suggest that proteolipid protein gene products may influence the development of anterior horn cells or peripheral nervous system myelin and that some individuals affected with this disease may present with clinical and electromyographic features suggestive of neonatal spinal muscular atrophy.
Ann Neurol 1994 Dec
PMID:Pelizaeus-Merzbacher disease presenting as spinal muscular atrophy: clinical and molecular studies. 799 80

Necrotizing enterocolitis was found in 77 infants over a 5 year period. Diagnosis of NEC was established on 4.9 + 4.8 days in babies with birth weight of 1667 + 577 grams and the gestational age of 33.3 + 2.6 weeks. Definite disease occurred in 33 (42.9%) babies while there was strong suspicion in another 44 (57.1%) babies. Prefeed gastric residue (98.7%), abdominal distension (97.3%), lethargy (78.7%), hypotonia (60%) and jaundice (48%) were the main presenting features. However, blood in stools and abdominal wall erythema were found in 38.7% babies. About one third of infants had a positive blood culture. Pneumatosis intestinalis was present in 83.9% of babies and pneumoperitoneum was seen in 35.5% of neonates with NEC. Ileo-ceco-colic region was the commonest site of involvement. Overall survival was 61% and survival with Stage III was only 13%. Birth weight less than 1500 g, gestational age less than 32 weeks, erythema of the abdominal wall, intra-abdominal mass, portal venous gas in abdominal X-ray and Gram negative septicemia were associated with higher mortality.
Indian Pediatr 1993 Dec
PMID:Neonatal necrotizing enterocolitis: a clinical study. 807 31

Segawa's disease (SD) is a hereditary progressive dystonia with marked diurnal fluctuation with onset in childhood or adolescence and a striking responsiveness to L-dopa. Here we describe a typical case of SD in a 28 year old woman whose disease begun at the age of 18 years. This patient had a second cousin with probable hereditary spastic paraplegia (Strumpell's familiar spastic paraplegia) who had no benefit on a recent L-dopa trial. Due to this family history our patient had been misdiagnosed as Strumpell's disease for more than 10 years. There was no other apparent case of SD in the family. Her father had an atypical gait but was otherwise normal. Her daughter had motor developmental delay due to hypotonia. Pes cavus was a common feature to the patient, her father and her cousin.
Arq Neuropsiquiatr 1993 Dec
PMID:[Segawa's disease: progressive dystonia responsive to L-dopa. A case report]. 814 58


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