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.
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
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.
Oppenheimer EH, Andrews EC: Ceroid storage disease in childhood.
Pediatrics 27:931, 1959.
Ryan GB, Anderson RM, Menkes JH, et al: Lipofuscin (ceroid) storage
disease of the brain: Neuropathological and neurochemical studies. Brain