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

The authors report 7 cases of infants presenting with an apparent life-threatening event associated with acute pericerebral haemorrhage (subarachnoid haemorrhage and/or subdural hematoma) without evidence of traumatism, abuse, or shaking. Clinical characteristics were the same in all cases, including limpness, severe dysautonomic disorders, and pallor; all infants had retinal and pre-retinal haemorrhages. Two infants died; the five survivors have severe neurologic sequelae. The symptoms revealing an infant's pericerebral haemorrhage are usually axial hypotonia and pallor. Traumatism remains the most common aetiology and must be searched for. Non-traumatic aetiologies are unusual and were excluded in these reported cases. The 'shaken baby' syndrome is not the sole aetiology of an apparent spontaneous pericerebral haemorrhage: a slight bump associated with predisposing vascular factors particular to infancy could be involved. When confronted with an apparent life-threatening event associating limpness and pallor, one must consider the diagnosis of pericerebral haemorrhage.
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PMID:[Is pericerebral hemorrhage a cause of severe malaise in infants?]. 133 65

The neuropathological and general pathological features of intraventricular hemorrhage are described in 32 neonates who had been born at term. Although the most common site of bleeding was the choroid plexus, a significant minority occurred in the subependymal germinal matrix. Associated neuropathological findings included meningeal venous congestion, periventricular white-matter necrosis and subarachnoid hemorrhage. Pulmonary hemorrhages, hyaline membranes and congenital heart-defects were common. Most of the infants had low Apgar scores at birth and lived for less than two days. Significant neurological findings included hypotonia, hyporeflexia, decreased activity level and seizures. Clinical signs had not been reliable enough to differentiate distressed neonates with intraventricular hemorrhage from those without. Intraventricular hemorrhage should be considered in both term and premature neonates who sustain perinatal asphyxia or who later develop evidence of neurological deterioration.
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PMID:Intraventricular hemorrhage in full-term neonates. 709 3

Citrullinemia, a rare inborn error of metabolism, is characterized by a deficiency of argininosuccinic acid synthetase that results in large increases in plasma ammonia, citrulline, and glutamine, with normal acid-base balance. The neurologic symptoms vary from poor feeding, vomiting, and irritability to hypotonia, apnea, and death. The most common pathologic findings at autopsy are cerebral edema and focal neuronal necrosis. We describe a case of fulminant citrullinemia in an infant in whom the major pathologic findings included diffuse cerebral edema and a lack of overt metabolic derangement characteristic of neonates with a urea cycle defect. Our case differs from the classic presentation of citrullinemia in that subarachnoid hemorrhage was identified early in the clinical course. We report the first observation of subarachnoid hemorrhage in an infant with a urea cycle defect.
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PMID:Perinatal pathology casebook. 886 47

We report a laboratory-confirmed pediatric case of congenital myotonic dystrophy (CMD) in Taiwan. A 5-year-old girl presented in our neurological clinic with the chief complaints of developmental delay and slowness in learning. Clinical examination, intelligence tests, and developmental examinations revealed myopathic facial weakness, passivity and delayed cognitive development. Past history review showed neonatal hypotonia, feeding difficulty with cyanosis, and poor activity. Neonatal studies only revealed subgaleal hematoma and subarachnoid hemorrhage with mild degree right side intraventricular hemorrhage. Current neurological examination disclosed percussion myotonia and myotonia as poor muscle relaxation after forceful handgrip. CMD was confirmed by electromyography study and DNA analysis. The patient's mother, though minimally affected, had similar laboratory results. CMD affects children in both motor and cognitive function; the diagnosis should be entertained in developmentally delayed children with subtle neurological signs, even without strong family history.
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PMID:Congenital myotonic dystrophy: report of one case. 1452 Oct 21

Autopsy is invaluable in identifying the causes of severe depression and very low Apgar score after birth and in assessing contributory conditions. Brain scans are increasingly used in the care of neonates who fail to respond to resuscitation at birth but their interpretation depends on the information gained from sound neuropathological studies. Asphyxia, both acute intrapartum asphyxia and chronic asphyxia, is an important cause of low Apgar scores. The gestational age and the nature of the asphyxial insult both have a profound influence on the ultimate pattern of injury. Asphyxia in the preterm brain tends to damage preferentially the white matter but some white matter damage is also seen in many infants who have an hypoxia-ischaemic insult at term though the predominant site of injury is to the central grey matter. The nature of the cellular damage and reactive change seen at autopsy is described. There is an association between low Apgar scores and intrauterine exposure to infection and maternal pyrexia. Detailed autopsy examination should include the search for infection. The placenta, cord and membranes should be examined in view of the mounting evidence of the association between intrauterine infection of the placenta and fetal membranes and prenatal brain damage. Additionally, the presence of placental thrombosis and infarction should be sought in relation to focal and global injury in the full term infant. Acquired prepartum lesions rarely cause the infant to present with a low Apgar score. The exception to this is severe damage to the brainstem and basal ganglia. Traumatic injury to the brain is now much less common than in previous decades. Subdural haemorrhage occurs more frequently than intraventricular or subarachnoid haemorrhage. Instrumental and assisted deliveries are associated with an increased incidence of subdural haemorrhage though these rarely cause significant long term damage. Careful autopsy, particularly of the neck and paravertebral tissues, spinal cord, brainstem and nerve roots is important where trauma is suspected. Tearing of nerve roots or fibre bundles in the spinal cord is readily demonstrated under the microscope using immunocytochemistry to beta-amyloid precursor protein. Disorders of the spinal cord, peripheral nerve and muscle as well as some metabolic diseases may cause a baby to be both floppy and weak. Metabolic disease, including peroxisomal disorders, non-ketotic hyperglycinaemia, lipid and glycogen storage disorders and mitochondrial diseases may cause profound hypotonia and respiratory failure at birth or shortly afterwards.
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PMID:The value of autopsy in determining the cause of failure to respond to resuscitation at birth. 1525 Nov 49

A 33-year-old man developed diffuse subarachnoid haemorrhage following attempted radiofrequency ablation for trigeminal neuralgia. Over the next 2 weeks, he progressively developed multiple bilateral cranial nerve palsies, bilateral cerebellar signs, hypotonia of all four limbs and diminished vision in both eyes. A visual-evoked potential study revealed anterior visual pathway defect. A possibility of demyelination was considered and he was treated with corticosteroids. His neurological deficits improved gradually over the next 4 months. He later underwent microvascular decompression uneventfully with good pain relief. This complication has not been reported earlier and needs to be kept in mind while performing radiofrequency ablation.
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PMID:Multiple cranial nerve palsies following radiofrequency ablation for trigeminal neuralgia. 1866 14