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Query: UMLS:C0476273 (respiratory distress)
 19,632 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two neonates showing generalized hypotonia, weakness of limbs, trunk, and oral musculature died because of muscular respiratory distress. The diagnosis of centronuclear (or myotubular) myopathy was established by histological and histochemical techniques. The genetic situation and routine laboratory data including electromyography were compared with similar cases in the literature; findings were inconclusive with respect to this diagnosis. These results indicate the need for a muscle biopsy and the use of histochemical stainings and/or electronmicroscopical investigation for a proper diagnosis in hypotonic newborns under respiratory distress after exclusion of etiologies other than neuromuscular diseases. Still the diagnosis of centronuclear myopathy in a neonate does not allow a precise prognosis. Increased awareness of this disorder and adequate diagnostic workup is needed in order to extend our understanding and to clarify the prognosis.
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PMID:Neonatal respiratory insufficiency due to centronuclear myopathy. 52 48

A Female infant is described with marked acceleration of her osseous maturation, unusual facial features, hypotonia and hypertrichosis. She was in respiratory distress and had feeding problems. She died at the age of 18 days.
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PMID:[Syndrome of accelerated skeletal maturation, type Marshall (author's transl)]. 56 87

A female premature infant with dwarfism, peculiar facial features, cleft palate and bone anomalies including bowing of the lower extremities with pretibial skin dimpling, the so called "campomelic syndrome" is presented. Other symptoms were hypotonia and respiratory distress. The radiological and autopsy findings in this child are described. The lack of known teratogenic factors during the pregnancy and the available data about the familial occurance of this malformation syndrome suggest the possibility of an autosomal recessive mode of inheritance in this patient. This is the first case of campomelic syndrome reported from Iran.
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PMID:[Campomelic syndrome (author's transl)]. 72 80

Certain common but seldom recognized clinical features of renovascular hypertension peculiar to infancy are emphasized in this communication from the observations made in a 9-month-old infant. Failure to thrive, extreme irritability, hypotonia, anorexia, vomiting, diarrhea, respiratory distress, and congestive heart failure are common clinical findings. Unless the physician is aware of this symptomatology or blood pressure is routinely obtained in all infants, the condition is likely to be missed. Renovascular hypertension is malignant and carries a high mortality but if diagnosed early may be cured by surgical intervention.
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PMID:Clinical features of renovascular hypertension in infancy: report of a 9-month-old infant. 115 42

The carbohydrate-deficient glycoprotein (CDG) syndrome in its most severe form (neonatal olivopontocerebellar atrophy) is a life-threatening multisystem disease. We report a neonate who was referred for cardiological assessment because of respiratory distress, a murmur and episodes of desaturation. After initial spontaneous improvement he presented at 9 weeks with evidence of a severe hypertrophic obstructive cardiomyopathy (HOCM). The diagnosis of CDG syndrome was suggested by the characteristic dysmorphic features, hypotonia, visual inattention and severe failure to thrive; it was confirmed by electrophoresis of serum transferrin. HOCM can be a feature of the CDG syndrome, in addition to the (previously reported) pericardial effusions.
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PMID:Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome. 129 80

We report a case of congenital myotonic dystrophy in a newborn infant who presented with hydrops fatalis. Clinical features were hypotonia, generalized edema, pleural effusion, respiratory distress, scalp hematomas, and tented mouth facies. Review of literature shows that congenital myotonic dystrophy is not a rare cause of nonimmune hydrops fetalis as previously thought.
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PMID:Hydrops fetalis associated with congenital myotonic dystrophy. 155 Jan 67

A total of 2248 infants born at All India Institute of Medical Sciences Hospital, New Delhi were selectively screened for hypoglycemia over a period of 15 months. Hypoglycemia (blood glucose less than 30 mg/dl) was diagnosed in 107 cases (4.8%). Preterm babies had three times increased risk (12.8%) as compared to term babies (3.6%). Small-for-dates (SFDs) and large-for-dates (LFDs) infants were at increased risk of manifesting hypoglycemia (7 and 10 times, respectively) as compared to the appropriate-for-dates (AFDs) babies (2.7%). Approximately two-thirds of the hypoglycemic babies (67.3%) had one or more risk factors including birth asphyxia (24.2%), diabetic mothers (23.8%), respiratory distress (13.9%) and septicemia (11.6%). A total of 59.8% cases were asmyptomatic while the rest had one or more symptoms. The most common symptom observed was lethargy (81.4%), followed by jitteriness (67.4%), respiratory abnormalities (41.9%), hypotonia (39.5%) and seizures (30.2%). The amount of glucose (mg/kg/min) needed to maintain a stable blood sugar in various categories of hypoglycemic babies was observed to be in the following decreasing order of amount; symptomatic babies with seizures (Gp IV), IGDM's/IDM's and symptomatic babies with other features (Gp III), SFDs and LFDs (Gp II) and AFDs (Gp I). Such a categorization of hypoglycemic babies will help to treat them more precisely.
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PMID:Neonatal hypoglycemia--clinical profile and glucose requirements. 159 96

The case of a 2-day-old male full-term newborn with myotubular (centronuclear) myopathy is reported. He presented with generalized hypotonia and muscle weakness, swallowing disturbance, and respiratory distress at birth. He had a typical myopathic face, high-arched palate, funnel chest, and mild bilateral ptosis. Deep tendon reflexes were absent. Serum creatine kinase was normal. The histologic examination of the muscle biopsy over the right rectus femoris muscle revealed an increased number of fibers with centrally placed nuclei, type 1 fiber predominance, type 1 fiber atrophy, and a peripheral halo in the sarcoplasm on NADH-TR staining. On electron microscopy, central nuclei were separated by strands of glycogen and mitochondria. His muscle strength showed clinical improvement at a 14-month follow-up. This case illustrates the need for a muscle biopsy and histochemical staining and/or electron microscopic investigation for a proper diagnosis in hypotonic newborns with respiratory distress.
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PMID:Neonatal myotubular myopathy with respiratory distress: report of a case. 168 84

Severe polyhydramnios, probably due to fetal lithium toxicity, is described. The mother had been treated with lithium because of manic-depressive psychosis. The plasma lithium level during the pregnancy was in or below the therapeutic range. From the 26th week of gestation, polyhydramnios developed. In the 35th week, 11.5 L of amniotic fluid was removed over a period of 12 hours by transabdominal amniocentesis. A cesarean delivery was performed in the 39th week of gestation because of fetal distress. The infant presented with the following symptoms, which in previous reports have been associated with lithium toxicity: asphyxia, apnea, cardiac decompensation, respiratory distress, hypoglycemia, thrombocytopenia, diabetes insipidus, hypotonia, and convulsions. The polyhydramnios was probably caused by fetal diabetes insipidus, possibly combined with cardiac decompensation. Lithium can be toxic to the infant and the fetus even though the mother is not affected and has a normal or low plasma lithium level. Polyhydramnios may be a sign of fetal lithium toxicity.
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PMID:Polyhydramnios with maternal lithium treatment. 240 68

We report the clinical and histochemical findings in 7 patients with myotubular (centronuclear) myopathy aged from 2 months to 32 years. The clinical symptoms varied from patient to patient. Three patients developed severe muscle weakness and hypotonia with respiratory distress from infancy, and 4 had muscle weakness from 2-5 years of age with no apparent delay in developmental milestones. In addition to an increased number of fibers with centrally placed nuclei, there were 3 other histochemical characteristics of this disorder, i.e., type 1 fiber predominance, type 1 fiber hypotrophy and type 2B fiber deficiency. Other histological findings included a peripheral halo in the sarcoplasm on NADH-TR staining and an increased number of undifferentiated type 2C fibers, indicating a delay in muscle fiber growth and differentiation due to a probable defective neural supply in the developing muscles.
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PMID:Muscle histochemistry in myotubular (centronuclear) myopathy. 246 17


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