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 female baby was born prematurely to a pre-eclampsic mother at our hospital. The mother had received fifty grams of magnesium sulfate intravenously within the forty-six hours prior to the delivery. This neonate suffered from severe respiratory distress, hypotonia, and hyporeflexia immediately after birth. She recovered completely after receiving low setting ventilatory support for twelve hours and intravenous calcium gluconate supply. All laboratory data were within normal limits except transient metabolic acidosis and elevated serum magnesium level to 2.28 mmol/L of the cord blood. The serum magnesium level dropped to 1.17 mmol/L at 12 hours of age. She tolerated oral feeding within the first day with no obervable neurological sequelae at the follow-up examination. Hypermagnesemia was judged to be the cause of the newborn's clinical presentation.
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PMID:Neonatal hypermagnesemia: report of one case. 263 15

Pregnancy and delivery present a number of risks for the mother suffering from myotonic dystrophy, and for her infant. Most of the time, she does not even know that she is affected by the disease and a carrier of the gene. We review the complications of pregnancy and delivery in myotonic patients, and propose a simple management with specific items for each gestational period. The child of a dystrophic mother has a 50% risk of inheriting the abnormal gene. He may also exhibit a developmental and malformation syndrome called "congenital myotonic dystrophy". From the beginning, he may show respiratory distress, thereafter inability to swallow and severely hypotonia. Later, he may demonstrate mental retardation. Some of the most obvious signs found in neonates in our practice are illustrated. We also add a few tests to the list of those already recommended for these children.
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PMID:[The mother and infant with Steinert's myotonic dystrophy]. 292 2

Two children born to myasthenic mothers presented at birth with severe arthrogryposis, hypotonia and respiratory distress which followed a favourable course. A family history in one of these two cases and in another case reported in the literature raises the problem of a possible recurrence.
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PMID:[Severe neonatal myasthenia with arthrogryposis]. 295 73

Primary hyperparathyroidism in the neonate is a rare and often fatal disorder. These infants typically display severe hypercalcemia, respiratory distress, muscular hypotonia, and skeletal demineralization. They are usually diagnosed within the first three months of life and have hyperplasia of the four parathyroid glands. Twenty-nine infants with primary hyperparathyroidism are reported in the literature. Mortality is 87.5% in medically managed patients and 24% in surgically managed patients. Surgical management has not been satisfactory, in that recurrent hypercalcemia has been encountered in most patients undergoing subtotal parathyroidectomy, and total parathyroidectomy has resulted in the need for lifelong calcium and vitamin D supplementation. We have recently cared for a term newborn female in whom the diagnosis of primary hyperparathyroidism was made clinically on the second day of life, and later was confirmed biochemically. The baby underwent neck exploration on the 11th day of life and was successfully treated with total parathyroidectomy and parathyroid autotransplantation. Although initially rendered eucalcemic, the infant subsequently developed recurrent hypercalcemia requiring the removal of some of the autograft. Currently, the child is more than 2 years following surgery, growing well, and off all medication. The world literature is reviewed in this report of one of the first and the youngest infants, to our knowledge, to undergo parathyroid autotransplantation. In view of its success in avoiding the complication of repeated neck exploration for recurrent hyperparathyroidism or the creation of permanent hypoparathyroidism, we recommend this surgical approach for the rare neonate with primary hyperparathyroidism.
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PMID:Primary hyperparathyroidism in infancy. 352 45

We report the results of a two-part study examining the frequency of symptoms and other findings associated with neonatal polycythemia. In the first part of the investigation, we evaluated the occurrence and features of the disorder in a cohort of 3,768 infants born at our institution that had been screened for the disorder during a 4-year period. Fifty-five infants (1.46%) had neonatal polycythemia. Of these infants, 85% had features associated with the disorder. Frequent signs and symptoms included "feeding problems" (21.8%), plethora (20.0%), lethargy (14.5%), cyanosis (14.5%), respiratory distress (9.1%), jitteriness (7.3%), and hypotonia (7.3%). Other findings included hypoglycemia (40.0%) and hyperbilirubinemia (21.8%). Of the polycythemic infants, 14.5% had no clinical symptoms or associated laboratory abnormalities. In the second portion of the study, we reviewed the features of polycythemia in all infants so diagnosed who were born in United States Army hospitals, worldwide, during a 5-year period. There were 220,050 infants born during this period; 932 (0.42%) were diagnosed as having neonatal polycythemia. Frequent findings were hyperbilirubinemia (33.5%), hypoglycemia (13.0%), and respiratory distress (6.6%). In this large group, only 13 (1.4%) had necrotizing enterocolitis, and nine (1.0%) were thrombocytopenic. Several findings among the 932 infants were unexpected. Six of the infants (only one premature) had intracranial hemorrhages. Additionally, three of the 932 had gonadal dysgenesis and three had cystic fibrosis. We found that premature infants were not less prone to having polycythemia and that the overall frequency of the disorder was less than that which has been previously reported.
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PMID:Neonatal polycythemia: frequency of clinical manifestations and other associated findings. 372 98

The authors report the second case in the English language literature of a rare abnormality of the fingers and nails associated with Pierre Robin syndrome. The patient was born at term to non-consanguineous parents. The only potentially toxic drug taken by the mother during the first months of pregnancy was Sympathyl, a combined preparation of phenobarbitone, methenamine and plant extracts (boldo, crataegus) used as sedative. The child presented at birth with typical Pierre Robin syndrome responsible for respiratory distress, associated with hypotonia, dysplasia of the right hip and cardiac murmur. His development was marked by pronounced psychomotor retardation. At the age of four the patient was referred for congenital malformations of the hands, and notably bilateral and symmetrical abnormalities of the 5th finger consisting of inflammatory-like tapering, soft tissue hypotrophy, sucked appearance of the ungual phalanx, absence of palmar flexion folds and skin ridges and above all, presence of an ectopic supernumerary nail on the volar aspect of the ungual phalanx. This extra nail was not fused with the dorsal nail, although both met at their lateral edges. Other abnormalities were camptodactylia of the 4th fingers, clinodactylia of the 4th and 5th fingers and irreducible extension of the 5th fingers contrasting with hyperlaxity of their metacarpophalangeal joint. The karyotype (46 XY) was normal. Avulsion of the ectopic nails confirmed that they were distinct from the dorsal nails, having their own matrix.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Onychoheterotopia with polyonychia associated with Pierre Robin syndrome: apropos of a new case. (Trial of classifying nail ectopia)]. 375 62

Neonates are susceptible to infection since several elements of the immune system are deficient. At present, the most common pathogens are Group B streptococci and Escherichia coli. Prolonged rupture of membranes with amnionitis is a high-risk setting. Clinical signs suggesting neonatal sepsis include respiratory distress, poor feeding, hypothermia, seizures and hypotonia. After the sepsis work-up is completed, the initial choice of antibiotics is based on the prevailing organisms and antibiotic sensitivities within the community.
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PMID:Neonatal sepsis. 389 74

Two female infants with nonketotic hyperglycinemia (NKH) were treated with diazepam for the control of seizures. The first infant had seizures, lethargy, and respiratory distress in the first 24 hours of life. The diagnosis of NKH was made at 3 weeks of age and she was then placed on a regimen of strychnine and a low-protein diet. Strychnine therapy was discontinued after three months of treatment because there was no improvement in the seizure control or in the patient's condition. At 5 months of age the patient was referred to our clinic for further work-up. The second infant had seizures, hypotonia, and respiratory distress shortly after birth. She was treated with phenobarbital and diphenylhydantoin, which had no effect on her seizures. The baby was referred to our clinic at 8 months of age and diagnostic studies revealed NKH. All previous medications were stopped and both infants were placed on diazepam, a competitor for glycine receptors in the CNS. Choline and folic acid were added for one-carbon unit transfer and sodium benzoate to bind excessive glycine. Both infants responded to this treatment with cessation of seizures; they became more responsive and alert, and their EEGs showed remarkable improvement despite the persistence of elevated glycine levels in plasma, CSF, and urine. Diazepam as a competitor for the receptors of glycine may prove helpful in controlling the intractable seizures associated with NKH.
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PMID:Nonketotic hyperglycinemia: treatment with diazepam--a competitor for glycine receptors. 630 Jul 46

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

The neonatal diagnosis of neuro-muscular diseases is difficult. From a series of 11 neonates presenting with such diseases, ante and postnatal semiology has been studied. During pregnancy, hydramnios (7/11) and decreased active movements were the most frequent symptoms. Delivery was often dystotic (7/11). After birth, respiratory distress, lack of motility, hypotonia, and muscle and tendon retraction were the clinical manifestations (10/11). Knowledge of this semiology should facilitate the ante and postnatal screening of affected patients. The diagnosis depends on family history and, overall, on the results of muscle biopsy.
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PMID:[Perinatal symptomatology of severe neuromuscular diseases. Apropos of 11 cases]. 639 38


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