Ramban-Hasharon Syndrome

A rare defect of fucose metabolism leading to a syndrome that combines neutrophil adhesion deficiency with severe neurological impairment, psychomotor retardation and short stature.

Leukocyte Adhesion Deficiency type II; Congenital Disorder of Glycosylation type IIc.

First described in 1992 in two unrelated boys, both offspring of consanguineous parents in Israel.

Autosomal recessive.

Inborn deficiency of several fucosylated glycoproteins. Caused by mutation in the gene encoding guanosine diphosphate (GDP)-fucose transporter-1 (FUCT1) located on chromosome 11. Lack of CD15, a cell-surface glycoprotein, leads to marked decrease in neutrophil motility. Lack of H antigen, a precursor to ABO antigen, leads to Bombay blood type (hh).

Clinically evocated in patients with unusual facial appearance, severe mental retardation, microcephaly, cortical atrophy, seizures, hypotonia, dwarfism, and recurrent infections with neutrophilia. Blood typing, leukocyte function test, and chromosomal study will confirm diagnosis. Can be diagnosed prenatally with cordocentesis for blood typing in suspected fetus.

Five cardinal manifestations can be defined: (a) Unusual facial appearance: microcephaly, coarse features, flat face, hypertelorism, anteverted nostrils, long upper lip, large protruding tongue, narrow palate, mandible may be small and retracted. (b) central nervous system: severe mental retardation, seizure, hypotonia, cerebral cortical atrophy. (c) Short stature: dwarfism. (d) Defective neutrophil motility: recurrent bacterial infection with neutrophilia common, particularly pneumonia, periodontitis, otitis media, and localized cellulitis with pus formation. (e) Bombay blood phenotype.

Absence of pus formation at site of infection is common. Frequency of infections decreases generally after age of 3 years.

Assess for evidence of concurrent infection, particularly pneumonia. Assess neurological function, including seizure control (clinical, EEG, CT). Assess airway for possible difficult tracheal intubation (clinical, radiographs). Ensure availability of blood if transfusion is anticipated.

Strict asepsis is needed because of neutrophil function alteration. No known particular risk with anesthesia. In view of the abnormal facies, should prepare for airway difficulties if they appear likely in the preoperative assessment. Careful intraoperative positioning is needed.

Consider interaction between antiepileptic treatment and anesthetic drugs. Muscle relaxants should be avoided until airway is secured. Consider prophylactic antibiotics as in immunodeficient patients.