Pigmentosum retinis and tubulo-interstitial nephronophtisis in Sensenbrenner syndrome: a case report

Purpose: Sensenbrenner syndrome or cranio-ectodermal dysplasia is an extrem ely rare autosomal recessive condition (12 cases reported in literature). O ur observation shows the possibility of both ocular and renal involvement a ssociated with cranio-ectodermal abnormalities. Patients and method: We report the case of a girl who presented a typical c ranio-ectodermal syndrome with dolicocephaly, short thorax, short limbs, sh ort fingers and teeth abnormalities. At five years, she was found to have p igmentosum retinis with amblyopy and moderate hyperopia. A chronic renal fa ilure with uncontrollable hypertension underwent a cadaveric-donnor transpl antation at the age of six years. Results: Two years later, the pigmentosum retinis was stable. The kidney hi stology revealed a tubulo-interstitial nephronophtisis. The molecular analy sis of the NPH 1 locus, wich was associated with nephronophtisis, was negat ive. Discussion: Our observation and two recent publications have in common ocul ar and renal abnormalities associated with cranio-ectodermal dysplasia. The underlying genetic defect would involve not only morphogenesis but also de velopment and maturation of organs as eye and kidney. Sensenbrenner syndrom e would thus he similar to certain disorders affecting the eye, kidney, ske leton and ectodermal structures such as the EEM, Senior-Loken, Mainzer-Sald ino, and Jeune syndromes. Conclusion: The retinal dystrophy falls within the spectrum of clinical and genetic forms of pigmentosum retinis. Our observation would confirm possib le links between Sensenbrenner syndrome and oculorenal syndromes.