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)

We reported an additional case of Arima's syndrome with slowly progressive renal insufficiency and epilepsy. The patient is a 20-year-old man whose parents are consanguineous. He had a history of mild asphyxia at birth, and unexplained tachypnea developed during the neonatal period. But it disappeared later, and he have had no respiratory problem since then. Physical examination on admission at the age of 19 years revealed bilateral blephaloptosis, narrow palate, searching nystagmoid movement, absence of light reflex, muscle hypotonia and wasting of extremities. Funduscopic study showed optic hypoplasia, choroid coloboma and narrowing of vessels. Head CT scan showed agenesis of cerebellar vermis and hypoplasia of brainstem. CT scan and echography of the kidney disclosed the bilateral multiple cysts. Liver was hyperechoic in echographic study; this finding is consistent with fatty change. EEG showed dysrhythmic slow wave activity with sporadic spike and wave complex. Compared with previously reported cases, the present case has the following features: (1) slowly progressive renal insufficiency, (2) generalized tonic clonic convulsion developing from the age of 11 months, (3) ABR abnormalities including the right-sided shortening of wave I-II interpeak latency and bilateral ill-defined wave V. Slow progress of renal failure in our case may reflect the mild pathological process of the kidney with sparing functional nephrons. It shows the diversity of the kidney pathology in Arima's syndrome. Epilepsy is a less common association in the syndrome, whereas EEG abnormalities were reported. ABR abnormalities may reflect the morphological alteration of the brainstem structure including auditory pathway. In our case it is uncertain whether the neonatal tachypnea was due to birth asphyxia or brainstem malformation responsible for abnormal respiration as suggested in Joubert's syndrome.
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PMID:[Cerebro-oculo-hepato-renal syndrome (Arima's syndrome) with slowly progressive renal insufficiency and epilepsy]. 176 Feb 7

We report 17 cases of the campomelic syndrome (CS) and a follow-up of one of the original patients of Maroteaux et al who is now 17 years old. Our review is based on 97 patients, including our own. An infant with the CS presents at birth with spectacularly short and bowed femora and tibiae. The initial chest radiograph confirms the diagnosis by demonstrating extremely small bladeless scapulae and hypoplastic pedicles of many thoracic vertebrae. Ossification of the sternal segments, pubis, talus, and knee epiphyses is also retarded. Usually the hips are dislocated and talipes equinovarus deformities are present. There is a small chondrocranium and a disproportionately large neurocranium. The bell-shaped chest, narrow superiorly, does not explain the degree of respiratory distress that soon ensues. Narrow airways from defective tracheo-bronchial cartilage can often be demonstrated on the radiograph, but micrognathia, retroglossia, cleft palate, hypoplastic lungs, and even CNS-based hypotonia contribute to the respiratory problem. Internal anomalies include frequent absence of olfactory bulbs and tracts and dilatation of cerebral ventricles, heart defects (PDA, VSD, stenosis of aortic isthmus), hydroureter and hydronephrosis, renal hypoplasia, renal hypoplasia, and rarely renal cysts.
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PMID:The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971. 634 34