Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Familial polyneuropathy mimicking Charcot-Marie-Tooth disease associated with parkinsonism and dementia has been reported in literature. We present with similar peroneal muscular atrophy, rigidity of upper extremities, severe peripheral neuropathy, mental retardation and diabetes mellitus. The patient, a 42-year-old man, developed progressive muscle weakness, mental retardation and difficulty in walking in childhood. Because of his pes cavus, he had three surgical operations. At the age of 20 years, he developed distal muscular atrophy of lower limbs. On neurological examination, all limb muscles were atrophic, especially in lower one third of the thigh. Rigidity was noted in the upper extremities. Deep tendon reflexes were hyperactive in the upper and diminished in the lower extremities. Muscle CT revealed low density areas in all the muscles examined, specially in the gastrocnemius and anterior tibial muscles. Needle EMG showed neurogenic change in the forearm, but not in the lower limbs, because of no voluntary contractions obtained due to severe muscle atrophy. Marked slowing of motor conduction velocity with muscle action potentials of very low amplitude was found in the ulnar nerve. Muscle action potentials were not elicited in the median and peroneal nerves. Sensory action potentials were not elicited from the median, ulnar and sural nerves. These findings were consistent with axonal polyneuropathy. In the sural nerve biopsy, the densities of myelinated fibers were markedly decreased. However, unmyelinated fiber densities were relatively preserved. Onion bulb formation was not found. This patient may be classified into hereditary motor-sensory neuropathy (HMSN) type II based on the clinical findings delayed nerve conduction velocities and axonal degeneration in the sural nerve. He has also diabetes mellitus. CT of the brain revealed nothing particular. He is one of members with familial Parkinson's disease (PD) developed in Sagamihara. Peroneal muscular atrophies are not necessarily associated with PD, though it has been occasionally complicated in various neuro-degenerative diseases including parkinsonism. We are now following the patient to detect the symptom of Parkinson's disease for early treatment.
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PMID:[An unusual case of peroneal muscular atrophy with rigidity, polyneuropathy, mental retardation, and diabetes mellitus developed in familial Parkinson's disease]. 866 30

Two children with mental retardation, choreoathetosis, dystonia, and muscle rigidity are reported. They had a history of severe hyperbilirubinemia after birth as a result of Rh isoimmunization. The history and clinical picture suggested the diagnosis of kernicterus. The magnetic resonance imaging examination showed a bilateral signal intensity increase in the globus pallidus on T2-weighted images. Additionally, our patients showed symmetric bilateral hyperintensity and volume loss in the hippocampus, which is known to be another characteristic area of bilirubin deposition in kernicterus.
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PMID:Bilateral mesial temporal sclerosis and kernicterus. 1509 Nov 33

We report a case of malignant catatonia initially diagnosed as neuroleptic malignant syndrome (NMS) that responded successfully to diazepam administration. A 29-year-old man with mental retardation was admitted to our hospital because of high fever, muscle pain, and consciousness disturbance. Fifteen days before admission, he had developed muscle pain and weakness in his legs. He presented with fever, tachycardia, tachypnea, elevated blood pressure, excessive sweating, and neurological findings of lethargy and severe muscle rigidity in the neck and extremities. Laboratory findings included elevated serum creatine phosphokinase (CPK) level. His clinical features and the laboratory test results fulfilled the diagnostic criteria for NMS. He was treated for NMS with dantrolene sodium and bromocriptine mesylate for 2 weeks; however, there was no improvement. Therefore, treatment was changed to diazepam administration because of suspected malignant catatonia. One week after initiation of diazepam administration, his symptoms gradually improved, and the serum CPK level normalized. The diagnosis of malignant catatonia was confirmed because treatment with diazepam was dramatically effective, whereas the initial treatment for NMS was not beneficial. The clinical presentation of malignant catatonia is similar to that of NMS. Indeed, some authors have described NMS as a variant of malignant catatonia. If treatment is refractory in cases of NMS, malignant catatonia may be suspected, and changing treatment to diazepam administration may be useful.
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PMID:[Diazepam-responsive malignant catatonia in a patient with an initial clinical diagnosis of neuroleptic malignant syndrome: a case report]. 2151 31

Neuroleptic malignant syndrome (NMS) is a life-threatening emergency that is often seen as a complication of antipsychotic agents. It is characterized by a tetrad of motor, behavioral, autonomic, and laboratory abnormalities. We report a case of a 34-year-old man with a history of newly diagnosed Type 2 diabetes mellitus, mental retardation, and behavioral abnormalities who developed NMS after starting on antipsychotic agents. He presented with high temperature, muscle rigidity, tachycardia, and elevated blood pressure. After a week of hospital treatment in the general ward of a secondary care unit, he was discharged in a hemodynamically and mentally stable state.
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PMID:Neuroleptic malignant syndrome. 2745 70