A case report of two Moroccan patients with hereditary neurological disorders and molecular modeling study on the S72L de novo PMP22 variant.

Hereditary neurological disorders represent a wild group of hereditary illnesses affecting mainly the nervous system, the majority of which have a Mendelian inheritance pattern. Here we present the case of two Moroccan patients each affected by a different hereditary neurological disorder. In the first patient WES analysis revealed the presence of the p.Ser72Leu de novo mutation in the PMP22 gene reported for the first time in Africa, specifically in Morocco. This variant is predicted to be in a mutation "hot-spot" region causing Dejerine-Sottas syndrome called also Charcot-Marie-Tooth type 3. The molecular modeling study suggests an important alteration of hydrogen and hydrophobic interactions between the residue in position 72 of the PMP22 protein and its surrounding amino acids. On the other hand, the p.Ala177Thr mutation on the RNASEH2B gene, responsible of Aicardi-Goutières syndrome 2, was carried in a homozygous state by the second patient descending from a consanguineous family. This mutation is common among the Moroccan population as well as in other North African countries. The present results contributed to a better follow-up of both cases allowing better symptom management with convenient treatments.

[Eales disease and tuberculous allergy]. / Maladie de Eales et allergie tuberculinique.

The authors report the case of a 25-year-old woman who presented unilateral Eales disease associated with biologically confirmed pulmonary tuberculosis. The patient, from a family with a history of tuberculosis, showed a painless and abrupt decrease in visual acuity of the right eye with venous and arterial vasculitis. Fluorescein angiography confirmed the existence of peripheral ischemia and vascular abnormalities. The biological exam showed a positive PPD and the BK was isolated. Antibiotic and corticosteroid drugs were used in the treatment. The clinical, immunopathological and therapeutic aspects of this disease are discussed.

[Bilateral anterior uveitis and acute tubulointerstitial nephritis (TINU syndrome). A case report]. / Uvéite antérieure bilatérale et néphrite tubulo-interstitielle aiguë (TINU syndrome). A propos d'un cas.

We describe a case of TINU Syndrome. A 17 year-old girl presented four weeks after an acute tubulo-interstitial nephritis with renal failure a bilateral anterior uveitis. Renal function improved spontaneously. Investigation failed to reveal systemic or infectious diseases. The treatment with oral and topical corticosteroids was successful for the uveitis.

[Retinal detachment in children]. / Décollement de rétine de l'enfant.

During the period January 1985-June 1990, 333 cases of retinal detachment were operated. Thirty cases (9%) were children aged between 5 to 15 years. Retinal detachment was due to developmental abnormalities: myopia, retinoschisis, inherited cataract and glaucoma in 71.4%. Ocular trauma was found in 28.5%. Peripheral vitreoretinal degenerations were found in 82.8%. Reattachment of the retina was achieved in 77.1% of cases. Best visual acuity was 0.4 or better in 40.7% of eyes.

[Treatment of vernal conjunctivitis with aspirin]. / Traitement de la conjonctivite printanière par l'aspirine.

The authors have made a study on 67 cases of vernal keratoconjunctivitis during 4 years (1984-1988). These cases were treated by aspirin by oral route, at the rate of 25 to 50 mg/kg. Aspirin and corticoïds make functional signs disappear and make clinical signs decrease. The efficacy of aspirin is better than the efficacy of corticoïds as far as side-effects as extension of the bull period are concerned.