1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-4-89 10.15844/pedneurbriefs-4-12-1 Metabolic and Degenerative Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Hereditary Fructose Intolerance http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 12 1990 01 08 2016 4 12 89 89 Copyright: © 1990 The Author(s) 1990 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Unusual cerebral manifestations in hereditary fructose intolerance

Symptoms of neurological impairment in five children with hereditary fructose intolerance are described from the Service de Pediatrie, Hopital Antoine Beclere, Clamart, France.

 Hereditary Fructose Intolerance Aldolase Hepatic Activity Intracranial Hypertension

Symptoms of neurological impairment in five children with hereditary fructose intolerance are described from the Service de Pediatrie, Hopital Antoine Beclere, Clamart, France. The diagnosis was proved by the deficiency of fructose-1-phosphate aldolase hepatic activity. Neurological symptoms during or after the acute phase of fructose intoxication included seizures, intracranial hypertension, tetraplegia, mental retardation, and deafness. Roentgenographic examination showed hydrocephalus, intraparenchymatous hemorrhage, cortical atrophy with ventricular dilatation, and ischemic or hypoxic cerebral lesions. In three patients cerebral impairment was secondary to cardiovascular collapse, prolonged hypoglycemia, or hemorrhagic diathesis related to liver insufficiency. Improvement followed treatment with a fructose-free diet but seizures necessitating anticonvulsant treatment persisted in three patients. [1]

COMMENT. Hereditary fructose intolerance is a metabolic disease of autosomal recessive inheritance that is due to a deficiency of aldolase B, the enzyme which catalyzes the catabolism of fructose-1-phosphate. The main symptoms are abdominal pain, vomiting, hypoglycemia, and liver dysfunction following the ingestion of fructose. Central nervous system involvement is unusual and serious sequelae may develop in cases that present with hemorrhage or hypoglycemia.

 Labrune P Chatelon S Huguet P Odievre M Unusual cerebral manifestations in hereditary fructose intolerance Arch Neurol 1990 Nov 47 11 1243 4 10.1001/archneur.1990.00530110105026 2241623