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

Twenty pre-eclamptic mothers treated with MgSO4 and their newborn infants were studied prospectively to determine the clinical and biochemical effects of hypermagnesemia. Maternal serum magnesium concentration rose to 4.4 mg/dl at delivery and was accompanied by a fall in maternal serum calcium concentration during labor. Neonatal serum Mg concentration remained elevated for the first 72 hours of life (mean at 72 hours = 3.0 mg/dl). Serum Mg concentration was higher in premature infants and in babies with birth asphyxia and/or hypotonia. Serum Ca concentration was higher and serum PTH was lower in hypermagnesemic study infants when compared to a retrospectively selected, matched froup of control infants. We speculate that elevated serum Mg values in these infants result in a shift of Ca from bone to plasma, and that elevated Mg and Ca concentrations further suppress neonatal parathyroid function.
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PMID:Neonatal hypermagnesemia: effect on parathyroid hormone and calcium homeostasis. 735 3

Two premature newborn infants developed extreme magnesium toxicity while receiving total parenteral nutrition (TPN) infusion. Both patients exhibited acute hypotonia, apnea, hypotension, and refractory bradycardia mimicking septic shock syndrome. The complete blood count was normal, and blood cultures were negative. Serum magnesium concentration in 1 patient was 43.1 mEq/L and in the other patient was 45 mEq/L (normal values for serum magnesium being 1.6-2.1 mEq/L). Hypermagnesemia resulted from malfunction of an automated TPN mixing device. Unexplained sudden onset of apnea, refractory bradycardia, and hypotension should raise suspicions of hypermagnesemia, a reversible condition if identified and treated early.
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PMID:Iatrogenic acute hypermagnesemia after total parenteral nutrition infusion mimicking septic shock syndrome: two case reports. 1283 9

A preterm female infant born at 27 weeks of gestation with a birth weight of 990 g developed acute hypotonia, apnea, hypotension and bradycardia mimicking septic shock syndrome at 14h after birth. Laboratory tests indicated a severe hypermagnesemia of 45 mg/dL. The renal function, complete blood count and maternal blood concentrations of magnesium were normal, and the blood cultures were negative. The patient recovered with treatment including exchange transfusion. However, the etiology of the severe hypermagnesemia remains unknown.
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PMID:Idiopathic severe hypermagnesemia in an extremely low birth weight infant on the first day of life. 2202 25

The clinical manifestations and cytogenetic details of a de novo partial deletion of the short arm of chromosome 8, del(8)(p23.1), and inversion of long arm chromosome 7, inv(7)(q11.2q32), are described. The case was a 22 month old girl referred to our cytogenetic laboratory due to many abnormal features such as congenital microcephaly, hypotonia, developmental delay, strabismus, highly arched palate, hypernatremia, hypermagnesemia and deafness. Chromosome analysis revealed 46,XX, inv(7)(q11.2q32),del(8)(p23.1) de novo karyotype. The concurrence of these two abnormalities has not been reported previously.
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PMID:Concurrence of inv(7)(q11.2q32) and del(8)(p23.1) in a girl with congenital microcephaly, hypotonia, developmental delay, strabismus, hypernatremia, hypermagnesemia and deafness. 2307 89

Floppy infant syndrome, also sometimes referred to as rag-doll syndrome, is characterized by hypotonia that could present as either peripheral hypotonia or central. Depending on the origin of hypotonia, the infant will present with different symptoms that ultimately have the characteristic feature of hypotonia. The clinical examination is crucial in diagnosing floppy infant syndrome in the neonate period, but the most critical factor is investigating and diagnosing the underlying cause of hypotonia. Regardless of whether the underlying cause of hypotonia is peripheral or central in origin, the presentation of floppy infant syndrome focuses on observing for the presence or absence of specific signs such as 'frog-leg' posture, significant head lag on traction or pull-to-sit maneuver, or the feeling of 'slipping through the hands' when the infant is held under the arms. Infantile botulism, transient neonatal myasthenia gravis, congenital myasthenia gravis, hypermagnesemia, and aminoglycoside toxicity are all neuromuscular junction disorders that are considered to be a differential diagnosis of floppy infant syndrome. These neuromuscular junction disorders ultimately impact the presence of acetylcholine within the neuromuscular junction. While some of these disorders may impact the acetylcholine receptors, others may cause a depletion within the end-plate anticholinesterase enzyme. A deficiency within the anticholinesterase deficiency may cause desensitization to acetylcholine, which could also cause present with floppy infant syndrome as well. Depending on the underlying causative disorder leading to the presence of floppy infant syndrome, the treatment will vary considerably. Treatment of the underlying causative syndrome resulting in the presentation of floppy infant syndrome deals with the symptoms of hypotonia, and as a result, the decreased muscle tone, diminished tendon reflexes, any feeding or respiratory difficulties diminish.
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PMID:Neuromuscular Junction Disorders and Floppy Infant Syndrome: A Comprehensive Review. 3207 26