Condrodisplasia puntiforme forma rizomélica: relato de caso

Abstract

The rhizomelic form of chondrodysplasia punctata is rare, with only 72 cases reported until 1995. The prognosis is bad and death usually occurs within the first year of age. The case presented here was diagnosed based on clinical and radiological criteria, due to the impossibility of searching for the peculiar biochemical markers.

Chondrodysplasia Punctata

“…The plasma level of phytanic acid is high, and the plasmalogen synthesis in fi broblast and erythrocytes is reduced usually, the serum level of fa y acids with long carbon chain is normal 5,6,7,8 . The chromosomal study demonstrates PEX7 muta on, 50% of them in the L292ter allele 4 . None of these biochemical or gene c tests has been performed in the present case.…”

“…The rhizomelic CDP is of autosomal recessive origin, characterized by a peroxisomal func onal defect resul ng in an enzyma c defi ciency where there is a decrease in the plasmalogen synthesis, decrease in phytanic acid oxida on and presence of a unprocessed (inac ve), the 3-oxacyl-CoA-thiolase 4 .…”

“…Currently this form of CDP is diagnosed through clinical features compa ble with the syndrome associated with biochemical fi ndings including serum phytanic acid levels, screening of plasmalogen synthesis on cultured fi broblasts 4 , as well as in erythrocytes, and plasma c level of fa y acids with long carbon chain 4,5 . The plasma level of phytanic acid is high, and the plasmalogen synthesis in fi broblast and erythrocytes is reduced usually, the serum level of fa y acids with long carbon chain is normal 5,6,7,8 .…”

“…This CDP variant is rare, with an es mated incidence of 1:100,000 and with only 72 cases reported in the literature up to 1995 2,9 . The main characteris cs described in the literature are symmetric and severe rhizomelicmicromelia (proximal shortening of limbs), punctate calcifi ca ons and long bones metaphyseal and epiphyseal ossifi ca on changes, punctate calcifi ca ons and coronal cle s in vertebral bodies of the thoracic and lumbar spine, microcephaly and growth retarda on, psychomotor delay, spas city and precocious death 2,4,10 . The presence of vertebral cle s, radiotransparent longitudinal zone observed in the lateral view, previously described as invariable in cases of rhizomelic CDP has not been present in three of fi ve cases analyzed by Wardinsky et al and in other cases reported in the literature, and is not obligatorily necessary for the diagnosis 5 .…”

“…Other characteris cs have been described with a variable frequency like ichthyosis, cataracts, restricted joint mobility, sucking and deglu on diffi culty, alopecia, audi ve and visual difi ciencies, seizures, op c nerves hypoplasia, kyphoscoliosis and cle spine 3,4,11,12 .…”