Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0023380 (lethargy)
 5,697 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We studied six cases of spongy degeneration of the CNS in infancy among Chinese. The main clinical features were cyclical vomiting and wailing, blindness, megalocephaly, convulsions, lethargy, and coma. Chief findings from light microscopic studies were spongiform change, moderate outfall of neurons, and marked astrocytosis, with formation of Alzheimer's cells type 2. Demyelination was only slight, if present. Electron microscopic studies revealed membrane-bound vacuoles, often containing membranous fragments or blisters and electron-dense granules.
 ...
PMID:Spongy degeneration of the CNS in infancy. 636 28

Dural sinus thrombosis in the newborn period is a rare but underrecognized condition which may cause seizures, macrocephaly, lethargy, and respiratory depression. A 10-day-old term infant with no pre- or perinatal risk factors for thrombosis presented with seizures and was found to have dural sinus thrombosis on computed tomography and magnetic resonance imaging (MRI). One week later, MRI revealed partial resolution and 3 weeks later disclosed a complete resolution of the thrombosis. Clinicians should consider the diagnosis of neonatal dural sinus thrombosis in infants presenting with seizures and/or increased intracranial pressure even in the absence of risk factors or when the cranial computed tomography is normal. MRI is the most sensitive diagnostic tool to establish the diagnosis and permit a noninvasive follow-up, contributing to our understanding of the natural history, associated pathology, and prognosis of this condition.
 ...
PMID:MRI in neonatal dural sinus thrombosis. 835 59

Heritable diseases associated with childhood tumors are sometimes defined as a probable etiologic factor or a coincidence. First of all, we must know the actual number of patients. Herein a case with medulloblastoma associated with glutaric aciduria type II [corrected] is reported for this purpose. A 5-year-old boy was admitted with nausea, vomiting, and lethargy. In medical history, consanguinity and siblings with mental-motor retardation and epilepsy are remarkable. Growth retardation, macrocephaly, lethargy, tremor, bilateral nistagmus, and papilledema were prominent features in physical examination. Noncontrast computed tomography of the brain showed a hyper dense mass in the cerebellar vermis. Gross total resection was made and the histopathology of the tumor was medulloblastoma. Besides medical history and physical findings, radiologic white matter changes in the subcortical, periventricular regions, bilateral basal ganglia, and caudate nuclei in magnetic resonance images other than tumor led us to investigate the child for glutaric aciduria type II [corrected]. The level of the 2-OH glutaric acid was determined as being 12-fold high in the urine. Chemo-radiotherapy was performed after surgery. Our case was the third patient with medulloblastoma in the literature and is still alive with no evidence of the disease 19 months after the initial diagnosis.
 ...
PMID:Glutaric aciduria type II [corrected] and brain tumors: a case report and review of the literature. 2042 13