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Inborn error of the fatty metabolism caused by a lysosomal enzyme deficiency and resulting in the accumulation of ceramide in body tissues with multiple organ failure and death in infancy (but mildly affected patients can reach adulthood). Severe motor and mental retardation is evident.

Acid Ceramidase Deficiency; Farber Lipogranulomatosis; Farber Disease.

Approximately 50 cases have been reported in the literature. Equally represented in males and females.

Autosomal recessive.

Accumulation of ceramide in tissue as a result of a deficiency of lysosomal acid ceramidase. This accumulation causes cell damage with an inflammatory response resulting in the formation of nodules or granules (not involving the CNS).

Suspected based on the classic triad of symptoms: synovial thickening associated with joint stiffness, subcutaneous granulomas, and hoarseness as a consequence of laryngeal involvement. It is established by the deficiency of ceramidase activity in lymphocytes or cultured skin fibroblasts and the identification of Farber bodies on biopsy of nodules (characteristic inclusions). Prenatal diagnosis is available (deficiency of ceramidase activity in cultured chorionic villi or amniocytes).

Characterized by progressive hoarseness, noisy respiration, nutritional failure associated with poor growth and development, multiple subcutaneous and periarticular nodules, and progressive arthropathies. Accumulation of ceramide in the nervous system causes psychomotor retardation, peripheral neuropathy, and muscle denervation. The heart can be involved in the disease process, with the presence of granulomas on cardiac valves. This clinical picture mainly fits the classic type I disease. Some other subtypes, which are even more unusual, may present with ocular, neurologic, and bone marrow involvement.

If bone marrow involvement is suspected, a CBC is recommended. An ECG and echocardiogram are recommended if valvular involvement caused by the disease is suspected.

Because of the presence of granulomas in the oral cavity, direct laryngoscopy and tracheal intubation may be difficult as a consequence of diminished space and poor visualization. Also, nutritional failure decreases albumin level and so increases the unbound fraction of many drugs. Cardiac disease, if present, should be managed appropriately. Antibioprophylaxis may be required. Finally, joint contractures require proper positioning of the patient on the operating room table.

Increased level of unbound drug because of decreased albumin level. Lower threshold for local anesthetic toxicity. Use of succinylcholine is not recommended if there is a severe denervation myopathy and the overall need for muscular relaxant will be minimal.

Erdheim-Chester Disease (ECD): Rare histiocytic disorder characterized by non-Langerhans cell histiocytosis resulting in extensive lipoid granulomas in various parts of the body and organs. Clinical manifestations range from asymptomatic to fatal multisystem involvement, typically bones, kidneys, hearts, and lungs.

Bar J, Linke T, Ferlinz K, et al: Molecular analysis of acid ceramidase deficiency in patients with Farber disease. Hum Mutat 17:199, 2001.  [PubMed: 11241842]
Haraoka G, Muraoka M, Yoshioka N, et al: First case of surgical ...

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