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)

A five-year old boy was the product of a 40 week pregnancy by vertex presentation complicated only by threatened abortion at approximately 8 weeks gestation. Apgar score was 5 after one minute. At birth he was noted to have a generalized hypotonia associated with facial diplegia, small mandible, weak suck and swallow reflexes. Admission examination revealed small mandible, mask-like facial expression and mild mental retardation. Cranial nerve examination showed bilateral blepharoptosis and facial nerve palsies. Pupil reflexes were normal, but corneal reflexes were impaired bilaterally. Diplopia due to the left abducens nerve palsy was suggested. There was no atrophy of the tongue. Motor tone, strength, and deep tendon reflexes were normal. A normal 46 XY karyotype was present. The other clinical and laboratory findings were normal. MRI of the brain was unremarkable. The characteristics of electrophysiological studies were summarized as follows: 1) Auditory brainstem evoked responses demonstrated waveforms IV-V were abnormal because their amplitudes were less than 30% of wave I bilaterally. 2) Somatosensory evoked potentials documented by central conduction times from cervical region to sensory cortex were prolonged on both sides. 3) Facial nerve conduction velocity was calculated by evoked EMGs of the mentalis muscle electrically stimulated at two distal points over the marginal mandibular branch. MCV of the left side was reduced (34.2 m/sec). 4) The amplitude of the facial muscle potentials evoked by facial nerve stimulation was reduced on both sides. 5) Blink reflex responses documented by the latency difference of R1 responses between the two sides were prolonged.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of Moebius syndrome--electrophysiological studies of facial nerve and brainstem]. 181 86

Orthotopic liver transplantation was performed in a 29-year-old woman because of increasing decompensation of HBs-antigen positive post-hepatitic cirrhosis. Postoperatively she developed a mild rejection reaction and diabetes mellitus. Thirteen months after the transplant she conceived twins. This high risk pregnancy was complicated by a febrile viral infection with purulent tracheobronchitis at 9 weeks and a threatened abortion at 11 weeks. At 33 weeks there was a sudden drop in haemoglobin due to a minor uterine rupture which necessitated cesarean section. The female infants--of development in keeping with the dates--showed no clinical or ultrasound evidence of any malformations. Apart from initial difficulties--asphyxia (second twin), fluctuating glucose and calcium levels, an episode of neonatal jaundice which required phototherapy, reluctance to suck and hypotonia--the further development of both twins proceeded normally. The maternal diabetes disappeared after delivery, HBs-antigen remained negative and the HBs-antibody titre rose. The patient has remained in good condition, both mentally and physically.
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PMID:[Twin pregnancy after liver transplantation]. 235 62