Affiliations: Department of Pediatrics, Al Rass General Hospital,
Qassim, Saudi Arabia | Dental Department, Al Rass General Hospital, Qassim,
Saudi Arabia
Note: [] Correspondence: Dr. Omer Suliman, Al-Rass General Hospital, PO
Box 2735, Qassim, Saudi Arabia. Tel.: +966 6 3381822; Fax: +966 6 3381376;
E-mail: [email protected]
Abstract: To describe the clinical, radiological and biochemical features of
18 new Saudi Arabian children with the carbonic anhydrase II deficiency
syndrome, who have been in follow up at Al-Rass General Hospital in the period
from September 2004 to September 2008. The medical records of these children
were reviewed. The diagnosis was based on the typical clinical, radiological
and biochemical evidence of the disease. These patients had characteristic
clinical features, which include typical facial appearance and growth and
psychomotor retardation. All patients had renal tubular acidosis (the majority
have distal renal tubular acidosis) and metaphyseal osteopetrosis.
Intracerebral calcifications were reported in 9 out of the 15 children in whom
cranial tomography scan of the brain was performed. Half had nystagmus, about
half had squint, another half had visual impairment and two patients had optic
atrophy and total blindness. Two patients had hepatosplenomegaly with anemia
and thrombocytopenia due to bone marrow involvement. Four patients had spastic
quadriplegia and three patients had pectus carinatum. The median age of
diagnosis was significantly lower than that reported, and two of the patients
reported in this study represent the first two cases to be diagnosed at birth.
Their intrauterine growth was normal, however radiological evidence of
osteopetrosis were reported at birth, but renal acidosis developed at around
2 weeks of age. The syndrome of carbonic anhydrase II deficiency is prevalent
in this region of Saudi Arabia. The disease has serious complications and early
diagnosis is important. This series included the first two cases that were
diagnosed at birth and also showed that central nervous system complications
are common presentation of this syndrome.
