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At a glance

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

Synonym

Lipofuscin Storage Disease.

Incidence

Unknown. Only isolated case reports exist.

Genetic inheritance

Unknown, but autosomal recessive transmission has been suggested.

Pathophysiology

Ceroid deposits are found in liver, spleen, lymph nodes, bone marrow, intestinal mucosa, 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, such as ☞Neuronal Ceroid Lipofuscinoses, including Batten Disease.

Diagnosis

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

Clinical aspects

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

Precautions before anesthesia

Preoperative blood work should include a complete blood count, serum electrolytes (including calcium), creatinine, urea, and liver function tests with coagulation parameters. For elective surgeries, significant electrolyte changes should be corrected preoperatively.

Anesthetic considerations

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 per se; however, ensure that coagulation and platelet count (thrombocytopenia secondary to hypersplenism) are within the acceptable range for regional anesthesia.

Pharmacological implications

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.

Other conditions to be considered

  • Hermansky-Pudlak Syndrome (☞Albinism; Oculocutaneous Albinism Type VIA; Oculocutaneous Albinism-Hemorrhagic Diathesis Syndrome): Autosomal recessive inherited, tyrosinase-positive, oculocutaneous albinism with bleeding diathesis secondary to a platelet storage pool deficiency, and occasionally restrictive lung disease, inflammatory bowel disease, renal insufficiency, and cardiomyopathy.

  • Hallervorden-Spatz Disease (Neurodegeneration with Brain Iron Accumulation Syndrome; Late Infantile Neuroaxonal Dystrophy; Pantothenate Kinase-Associated Neurodegeneration [PKAN]; PKAN Syndrome; Juvenile-Onset PKAN Neuroaxonal Dystrophy): Inherited disorder characterized by progressive degeneration of the central nervous system as a result of iron depositions in the basal ganglia. Most commonly, it begins in childhood as a dystonic syndrome. Other features include distorting muscle contractions of face, limbs, and trunk, choreoathetosis, muscle rigidity, spasticity, seizures, ...

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