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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical and morphologic findings of three patients with metabolic acidosis, methylmalonic aciduria, and homocystinuria are presented. The clinical evolution of the patients was similar and was characterized in the first weeks of life by failure to thrive, hypotonia, and lethargy associated with pancytopenia and hepatic dysfunction, eventually progressing to severe respiratory insufficiency and renal failure consistent with a hemolytic-uremic syndrome. The patients died at 40, 45, and 75 days of age. Biochemical analyses and complementation studies revealed a congenital anomaly of vitamin B12 metabolism (cobalamin C disease). Postmortem morphologic findings in all three cases were dominated by a thrombotic microangiopathy of the kidneys and lungs, diffuse hepatic steatosis, and megaloblastic changes in the bone marrow. A severe gastritis with striking cystic dysplastic mucosal changes and total absence of parietal and chief cells was a consistent finding in all three cases, the rest of the gastrointestinal tract appearing essentially normal. Cobalamin C disease is an intracellular defect of cobalamin metabolism with possible recessive inheritance that can result in multiorgan failure early in life, with a thrombotic microangiopathy and unusual changes in the gastric mucosa.
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PMID:A congenital anomaly of vitamin B12 metabolism: a study of three cases. 156 46

A previously unreported X-linked MCA/MR syndrome is described in 4 members of a large family. Phenotypic manifestations include mental retardation, microcephaly, failure to thrive, severe congenital hypotonia, characteristic face, hypogenitalism, pachygyria. This appears to be an X-linked dominant trait with decreased penetrance and expressivity in carrier females.
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PMID:New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria. 160 25

We report on 2 brothers with a distinctive facial appearance, severe mental retardation, short stature, cryptorchidism, asplenia in one, dramatic failure to thrive, early hypotonia, and later hypertonia all suggestive of the Smith-Fineman-Myers syndrome. All 5 of the reported cases have been males, suggesting X-linked inheritance.
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PMID:Smith-Fineman-Myers syndrome in two brothers. 1075 Oct 95

Two brothers presented with olivopontocerebellar atrophy of neonatal onset. The clinical features (failure to thrive, hypotonia, liver disease, effusions, and visual inattention) were similar to those of the four cases already reported, as were the necropsy findings of olivopontocerebellar atrophy, hepatic steatosis and fibrosis, and microcystic renal changes. The clinical similarities between this and the disialotransferrin developmental deficiency syndrome were noted. The characteristic abnormality of serum transferrin found in the latter syndrome was also found in the two cases reported here. We suggest that both syndromes are caused by the same, or related, defects in glycoprotein metabolism.
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PMID:Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome. 192 7

A minute familial translocation t(10;16) (q26;p13.1) was detected in a family with 6 affected children in 2 generations and 9 carriers in 3 generations. This apparently unique translocation is associated with a deleterious syndrome which includes fetal hydrops, ascites, complex congenital heart defect, psychomotor retardation, failure to thrive, hypotonia, narrow palpebral fissures, abnormally modeled, apparently low-set ears, cleft palate, thumb abnormalities, hypogenitalism, inguinal hernia, and sparse hair. All children of known or presumed carriers have been either balanced or unbalanced carriers of this translocation.
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PMID:A familial MCA/MR syndrome due to translocation t(10;16) (q26;p13.1): report of six cases. 201 19

Pulmonary hypertension without any cardiovascular malformation was diagnosed by heart catheterization in a 4 year old girl with trisomy 21. A suspected obstructive sleep apnea syndrome was confirmed by polysomnography which revealed numerous obstructive apneas and hypopneas (apnea-index 23/h) with marked oxygen desaturation and a disturbed sleep pattern. Three months after adenotonsillectomy the mother reported her daughter having a quiet sleep without snoring. Polysomnography did not show any apnea nor any oxygen desaturation below 90%. A decrease of the pulmonary artery pressure was documented. Facial dysmorphias and muscle hypotonia predispose patients with trisomy 21 to obstructive sleep apnea, especially if hypertrophy of tonsills and adenoids coexist. Frequent arousals and hypoxia during sleep can result in failure to thrive and pulmonary hypertension. These consequences can be prevented by early diagnosis and treatment.
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PMID:[Obstructive sleep apnea syndrome in a child with trisomy 21]. 215 Aug 74

We describe a 29-year-old male with untreated primary neonatal hyperparathyroidism. Hypotonia, poor feeding, failure to thrive, and developmental delay were noted in early infancy and in incidental serum calcium of 3.8 mmol/L was dismissed as a laboratory error. Childhood was characterized by profound muscle wasting and progressive spastic quadriparesis. Distinctive skeletal deformities, facial dysmorphism, and perichondral calcifications are now evident in adulthood. Elevated serum calcium (range: 2.7-3.3 mM; normal less than 2.7 mM), serum immunoreactive parathyroid hormone (range: 1,405-1,817 pg/mL; normal 50-140 pg/mL), and markedly decreased urinary calcium excretion (0.04 mumol/dL glomerular filtrate; normal greater than 25) suggested the diagnosis of primary neonatal hyperparathyroidism. This was supported by evidence of hypocalciuric hypercalcemia--the autosomal dominant carrier state--in both the parents. Our case illustrates the profound neurodevelopmental deficits arising from sustained hypercalcemia in infancy and childhood. Although this disorder is not lethal, it should be considered a neonatal emergency, since surgical parathyroidectomy can result in cure.
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PMID:Primary neonatal hyperparathyroidism: a devastating neurodevelopmental disorder if left untreated. 221 66

Most inborn errors of intermediary metabolism presenting in the neonatal period fall schematically into three clinical categories: (1) those which lead to a neurological distress 'intoxication type' with a symptom-free interval, vomiting, comas, hypertonia, abnormal movements and frequent humoral disturbances (organic acidaemias, congenital urea cycle defects); (2) those which lead to a neurological distress 'energy deficiency' type. Frequent symptoms in this group include hyperlactacidaemia, severe hypotonia, cardiomyopathy, failure to thrive and malformations (congenital lactic acidaemias, fatty acid oxidation defects, peroxysomal disorders); (3) those which present evidence of liver dysfunction and hepatomegaly (glycogenesis, neoglucogenesis defects, galactosaemia, fructosaemia, tyrosinaemia type I). According to these three major clinical presentations and according to the proper use of few screening tests (blood gases, glucose, ammonia, lactic acid, electrolytes, acetest), we propose a method of diagnosis which groups these children into five schematical syndromes: type I MSUD; type II organic acidaemias; type III; congenital lactic acidosis; type IVa, urea cycle defects; type IVb, non-ketotic hyperglycinaemia, sulfite oxidase deficiency, peroxisomal disorders; type V liver dysfunctions. Once the above classification has been made, sophisticated and specific investigations can be planned (amino acid chromatography, organic acid chromatography, enzymatic studies, etc).
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PMID:Clinical approach to inherited metabolic disorders in neonates. 226 19

The Prader-Willi syndrome consists of infantile hypotonia, failure to thrive, hypogonadism and developmental delay. It was first described in 1956. Later in life hypotonia improves. Between the age of two and four obesity becomes noticeable and between six and ten there is uncontrollable behaviour. A survey has been carried out of the 36 known cases in New Zealand and the pattern of the disease is similar to that elsewhere. In most cases the diagnosis was not established until between the ages of six and 10 when the obesity was marked and uncontrolled behaviour a problem. Early control of the obesity is helpful.
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PMID:Prader-Willi syndrome in New Zealand: a survey of 36 affected people. 231 43

Obstructive sleep apnea is the underlying cause of a variety of pediatric maladies, including pulmonary hypertension and failure to thrive. In children, unlike adults, obstruction secondary to lymphoid hyperplasia is often encountered; adenotonsillectomy restores airway patency. Patients who fail this procedure, such as children with cerebral palsy and associated muscular hypotonia, may face tracheotomies. We report on 10 pediatric patients with severe mental insufficiency and obstructive sleep apnea in whom palatal hypotonicity and lack of adenotonsillar hypertrophy was identified. Uvulopalatopharyngoplasty was performed in conjunction with adenotonsillectomy to enlarge the diameter of the nasopharyngeal inlet with successful resolution of the obstructive symptoms in eight patients. The remaining two children required more surgery. This procedure is presented as a possible alternative to tracheotomy in selected patients.
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PMID:Surgical therapy of obstructive sleep apnea in children with severe mental insufficiency. 232 9


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