Ceroid Storage Disease

A metabolic disease resulting from accumulation of ceroid in the body leading to neurologic and hepatic impairment.

Lipofuscin Storage Disease.

Unknown. Only isolated case reports exist.

Unknown.

Ceroid deposits are found in liver, spleen, intestinal mucosa, lymph nodes, bone marrow, and perithymic fat tissue. Ceroid is a granular, autofluorescent substance, also known as lipofuscin. It is thought to consist of cholesterol esters and glycolipids. It has been identified in human tissues, within neurons and large macrophage-like cells in association with several disease processes, for example, Neuronal Ceroid Lipofuscinoses, including Batten Disease.

Histologic features of affected tissues, in combination with clinical course.

Poor physical and mental development, progressive malabsorption, hepatosplenomegaly, liver cirrhosis, anemia, and thrombocytopenia can be observed. Laboratory changes described have included hyponatremia, hypocalcemia, hyperbilirubinemia, and prolonged clotting times. Death usually occurs in childhood.

Assess renal and hepatic function and serum levels of electrolytes including calcium. Check complete blood count and obtain a clotting profile. Ideally, significant electrolyte changes are corrected preoperatively.

Anesthesia in this disorder has not been described. Portal hypertension is possible and may result in significant bleeding, particularly during abdominal surgery. Therefore, large-bore intravenous access is recommended. Insertion of a nasogastric tube should be performed carefully with a well-lubricated tube to avoid bleeding from possible esophageal varices. Regional anesthesia seems not to be contraindicated, however, ensure that coagulation and platelet count (thrombocytopenia secondary to hypersplenism) are within the acceptable range for regional anesthesia.

Liver cirrhosis may not only result in altered metabolism of most anesthetic and other drugs but also affects the protein-binding, and consequently, the efficacy and toxicity of (highly protein-bound) drugs. The choice and dosage of drugs should consider hepatic and/or renal dysfunction.

Hermansky-Pudlak Syndrome (HPS): Genetically transmitted metabolic disorder causing albinism, visual impairment, and platelet pool storage deficiency resulting in bleeding diathesis and lysosomal accumulation of ceroid lipofuscin with pulmonary fibrosis, inflammatory bowel disease, and renal insufficiency.

Hallervorden-Spatz Disease: Inherited disorder characterized by progressive degeneration of the central nervous system as a result of iron deposition in basal ganglia. Most commonly, it begins in childhood as a dystonic syndrome. Other features include distorting muscle contractions of the face, limbs, and trunk, choreoathetosis, muscle rigidity, spasticity, seizures, and dementia. Less common symptoms include painful muscle spasms, mental retardation, and visual impairment.

Neuronal Ceroid Lipofuscinoses: A group of hereditary, progressive, neurodegenerative disorders with mental retardation, visual loss, and seizures. This group probably represents the most common class of neurodegenerative diseases in children.