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)

The patient, a 25-year-old male, was admitted with a 2-year history of double vision and recurrent suboccipital headache. Neurological findings on admission revealed nystagmus, double vision in the far field, bilateral abducense palsy, weakness in the bilateral legs, hypalgesia and hypesthesia under the L5 level, gait disturbance and hypotonia of the anal sphincter. Plain skull X-ray showed marked digital impression and disappearance of the posterior clinoid process and the dorsum sella. Myelography disclosed a filling defect dorsal to upper and midcervical cord. Intraventricular injection of metrizamide outline cystic dilatation and caudal migration of the fourth ventricle. Occipital craniectomy and laminectomy from C1 to C6 was performed. Operative findings showed thickened arachnoid membranes and cystic expansion of the fourth ventricle lying dorsal to the cervical cord. Caudal portion of the ventricle was removed, and V-P shunt was placed into the fourth ventricle to maintain decompression of the cystic part of the fourth ventricle. This patient is considered to represent a case of cystic dilatation (or ventricular diverticulum) of the fourth ventricle in Arnold-Chiari malformation. We stress that posterior decompression with V-P shunting procedure is recommended as the treatment of choice for such Arnold-Chiari type II malformation.
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PMID:[Cystic dilatation of the fourth ventricle--case report]. 179 25

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

Bromisoval has been used as a hypnotic for the past several decades, and its abuse was known to cause various neurological as well as psychiatric symptoms. Three patients showed a variety of symptoms which could not be explained neuroanatomically: nystagmus, gait disturbance and hyperreflexia of the limbs in all the cases, dysarthria, double vision, hypotonia, ataxic gait and disturbance of consciousness occasionally and auditory agnosia in one case. For the purpose of determining the diagnosis, an energy dispersive X-ray microanalysis (EDX) was used to detect bromine. Five microliters of specimens were placed on the carbon-coated mesh, and using a TN-2000 analyzer, characteristic X-ray peaks of bromine were detected in the serum, urine and cerebrospinal fluid. The sensitivity to detect bromine in the serum was 30 micrograms/ml.
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PMID:Three cases of chronic bromisoval intoxication: clinical symptoms and application of energy dispersive X-ray analysis (EDX) to detect bromine in serum, urine and cerebrospinal fluid. 362 93

Botulism is a rare but severe disease. Whereas until 1980, only one case of botulism had been reported in our department, in 1999, a real botulism epidemic took place in Morocco. To our knowledge, it's the first outbreak of that kind in Morocco. We report here an epidemiologic and descriptive study of 11 patients suffering from botulism, admitted at the Infectious Diseases department and in the Medical Intensive Care Unit of Ibn Rochd University Hospital, from August, the 10th to October, the 1st, 1999. Clinical diagnosis of botulism was made, at the admission, on ocular signs (diplopia, ptosis), swallowing troubles and/or muscle weakness. There was no fever, no trouble of conscience and normal reflexes, at the early stage of the disease. The average age of patients was of 23.9 years +/- 12.07. Three patients were first admitted in the Medical Intensive Care Unit. The period before symptom appearance varied between 7 and 96 hours. Dysphagia sore throat, dry mouth and dysphonia were always found in all patients, with normal conscience. The fever was noted in 3 cases, polypnea in 3 cases leading to respiratory assistance in 2 cases. Neurologic findings were dominated by ptosis and hypotonia. The search of botulism toxin B in blood was positive in 6 cases. The electromyography showed clear signs of botulism. The evolution was favourable in 10 cases. Respiratory complications were found in 2 cases and infectious complications in 4 cases. One patient died. The period of hospitalization varied between 10 to 24 days with an average stay of 15.8 days. Eating "mortadella" has been noticed in 7 patients) and investigations permitted to identify the factory of "mortadella" as well as the toxin's type B responsible for these poisoning. It appears clearly that it is important to reinforce hygiene controls. Physicians and specialists in public health must be aware of the severity of this illness, knowing that the recovery is shortened when the treatment is administered on an early stage of the disease.
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PMID:[Botulism in Casablanca. (11 cases)]. 1259 77

Few data sources are available to assess the global and regional risk of sequelae from bacterial meningitis. We aimed to estimate the risks of major and minor sequelae caused by bacterial meningitis, estimate the distribution of the different types of sequelae, and compare risk by region and income. We systematically reviewed published papers from 1980 to 2008. Standard global burden of disease categories (cognitive deficit, bilateral hearing loss, motor deficit, seizures, visual impairment, hydrocephalus) were labelled as major sequelae. Less severe, minor sequelae (behavioural problems, learning difficulties, unilateral hearing loss, hypotonia, diplopia), and multiple impairments were also included. 132 papers were selected for inclusion. The median (IQR) risk of at least one major or minor sequela after hospital discharge was 19.9% (12.3-35.3%). The risk of at least one major sequela was 12.8% (7.2-21.1%) and of at least one minor sequela was 8.6% (4.4-15.3%). The median (IQR) risk of at least one major sequela was 24.7% (16.2-35.3%) in pneumococcal meningitis; 9.5% (7.1-15.3%) in Haemophilus influenzae type b (Hib), and 7.2% (4.3-11.2%) in meningococcal meningitis. The most common major sequela was hearing loss (33.9%), and 19.7% had multiple impairments. In the random-effects meta-analysis, all-cause risk of a major sequela was twice as high in the African (pooled risk estimate 25.1% [95% CI 18.9-32.0%]) and southeast Asian regions (21.6% [95% CI 13.1-31.5%]) as in the European region (9.4% [95% CI 7.0-12.3%]; overall I(2)=89.5%, p<0.0001). Risks of long-term disabling sequelae were highest in low-income countries, where the burden of bacterial meningitis is greatest. Most reported sequelae could have been averted by vaccination with Hib, pneumococcal, and meningococcal vaccines.
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PMID:Global and regional risk of disabling sequelae from bacterial meningitis: a systematic review and meta-analysis. 2041 14

Griscelli syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. Three different types are caused by defects in three different genes. Patients with GS type 1 have primary central nervous system dysfunction, type 2 patients commonly develop hemophagocytic lymphohistiocytosis, and type 3 patients have only partial albinism. While hematopoietic stem cell transplantation is life saving in type 2, no specific therapy is required for types 1 and 3. Patients with GS types 1 and 3 are very rare. To date, only 2 patients with type 3 and about 20 GS type 1 patients, including the patients described as Elejalde syndrome, have been reported. The neurological deficits in Elejalde syndrome were reported as severe neurodevelopmental delay, seizures, hypotonia, and ophthalmological problems including nystagmus, diplopia, and retinal problems. However, none of these patients' clinical progresses were reported. We described here our two new type 1 and two type 3 patients along with the progresses of our previously diagnosed patients with GS types 1 and 3. Our previous patient with GS type I is alive at age 21 without any other problems except severe mental and motor retardation, patients with type 3 are healthy at ages 21 and 24 years having only pigmentary dilution; silvery gray hair, eye brows, and eyelashes. Since prognosis, treatment options, and genetic counseling markedly differ among different types, molecular characterization has utmost importance in GS.
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PMID:Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients. 2271 75