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Characterized by progressive familial encephalopathy in infancy, calcification of the basal ganglia and chronic cerebrospinal fluid (CSF) lymphocytosis. This medical condition leads rapidly to a vegetative state and early death. It is considered to be a distinct type of leukodystrophy transmitted as an autosomal recessive trait.

Familial Infantile Encephalopathy with Calcification of Basal Ganglion.

Forty cases have been reported in the literature, highest among consanguineous couples. It is considered a heterogenous autosomal recessive disorder. The gene map locus leads to 3p21.

Calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis.

Based on clinical presentation of progressive encephalopathy associated with chronic CSF elevation of lymphocytosis (pleocytosis), interferon-alpha, neopterin and biopterin, and 5-methyl THF. A CT or MRI scan shows frontal atrophy, white matter hypodensity, and calcification of lenticular nuclei. This medical condition resembles the neurological sequelae of congenital infection but with negative TORCH serology results.

Progressive infantile encephalopathy, extrapyramidal dyskinesia, porencephaly, holoprosencephaly, microcephaly, plagiocephaly, spastic quadriplegia, profound mental retardation, coloboma, hypertonia, rigidity, seizures, ptosis, leading to a vegetative state death usually by age 4 years. Other clinical features include visual disturbance with abnormal eye movement.

A complete evaluation of the central nervous system (CNS), respiratory and cardiac dysfunctions must be obtained. Obtain a 12-lead ECG and echocardiography when necessary. The possibility for difficult airway management during face-mask ventilation and tracheal intubation must be considered. Obtain chest x-rays, arterial blood gas analysis, and pulmonary function tests, where applicable, to rule out potential restrictive and reactive pulmonary disease. Patients receiving antiseizure medications should be maintained until the morning of surgery.

High complication rate depending on severity of disease and degree of cardiac, respiratory, and neurologic dysfunction. Consider avoidance of elective surgery under general anesthesia. Expect a high degree of variability with respect to duration of action of nondepolarizing muscle relaxants. Potential of hyperkalemia with succinylcholine administration. Difficult intubation must be anticipated in patients with microcephaly and retrognathia. Potentially difficult vascular access. Following prolonged surgical procedures, the use of mechanical ventilation and intensive care observation might be indicated.

Possible hyperkalemia with succinylcholine administration, expect possible prolongation of action with nondepolarizing muscle relaxants. Patients on chronic antiseizure medications may show signs of hepatic enzyme activations which might interfere with the pharmacokinetic of the anesthetic agents.

Torch Syndrome: An acronymic syndrome referring to a group of fetal infectious malformations. It stands for: Toxoplasmis, Other agents, Rubella, Cytomegalovirus, and Herpex simplex. Common signs involve essentially intracranial anomalies such as intracerebral calcifications and seizure.

Crow YJ, Jackson AP, Roberts E, et al: Aicardi-Goutieres syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. Am J Hum Genet 67:213, 2000.  [PubMed: 10827106]
Mehta L, Trounce JQ, Moore JR, Young ID: Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis. J Med Genet 23:157, 1986....

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