Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove syndrome: a case report.

BACKGROUND: Allgrove syndrome is a rare autosomal recessive disorder characterized by the triad of achalasia, alacrimia and adrenal insufficiency. It is caused by the mutations of the AAAS gene located on chromosome 12q13. The c.1331 + 1G > A mutation is one of the most common described in North Africa including Tunisia, Algeria and Libya. We report here the clinical and genetic profile of a Moroccan family with Allgrove syndrome. CASE PRESENTATION: A Moroccan sister and brother born to consanguineous parents were found, at the ages of twelve and fifteen months old respectively, to have alacrimia and isolated glucocorticoid deficiency. Later, they developed achalasia whereupon Allgrove syndrome was diagnosed clinically and confirmed by DNA sequencing which revealed a c.1331 + 1G > A mutation in the AAAS gene. CONCLUSION: This finding reinforces previous studies in demonstrating the geographic expansion of the ancestral mutation c.1331 + 1G > A in North African patients and thus enabling targeted genetic counseling. To the best of our knowledge, this is the first report of the AAAS gene mutation in Moroccan patients.

[Rotary C1-C2 dislocation: a case report]. / La luxation rotatoire C1-C2 : à propos d'une observation.

The atloid-axoid rotatory slipped disc is a rare pathology with still uncertain etiology. Many situations can be factors of this disease. We report a case in a child who was admitted to the hospital for a stiff neck that had been evolving for 1 month. The clinical examination found an irreducible angular deformity of the neck and multiple cervical adenopathies. The ORL examination was normal, the biological tests showed no disorders, and the X-ray examinations were also normal. Unexpected admission features were also disconcerting. The child suddenly presented a stiff neck on waking 2 days after a traditional circumcision at home, which might have been traumatizing. The mother also reported fever a few days before, attributed to rhinopharyngitis. Before his referral to the Rabat Children's Hospital, the child had received an anti-inflammatory treatment without any improvement. He had also been considered to have an opisthotonos on admission and was treated for suspected tetanus. Finally, the rotatory dislocation of C1-C2 was suggested, and a cervico-occipital junction scanner with three-dimensional reconstructions confirmed the diagnosis. The child was treated with cranial traction with good progression. This case opens the discussion of this rare disease, often unrecognized, which requires a multidisciplinary approach.