[Renal ultrasound in fat necrosis]. / Intérêt de l'échographie rénale dans la cytostéatonécrose sous-cutanée.

Subcutaneous fat necrosis is an uncommon disease that may be complicated with potentially fatal hypercalcemia or with nephrocalcinosis. We report on the case of a patient with a history of significant perinatal asphyxia, hospitalized for a urinary tract infection. Lesions of subcutaneous fat necrosis were noted, with asymptomatic hypercalcemia at 3.9mmol/L. A renal ultrasound was performed and showed echogenic medullary pyramids bilaterally, consistent with nephrocalcinosis and left nephrolithiasis. The treatment of hypercalcemia included hyperhydration, a diuretic and corticosteroids. Progression was characterized by the total regression of skin lesions and normalization of serum calcium. Hypercalcemia is a rare complication of subcutaneous fat necrosis. It develops within days to weeks after the appearance of skin lesions. Nephrocalcinosis appears after several weeks or months. Hypercalcemia must be treated in due time to avoid the impact on the kidney.

[Purpura fulminans, venous thrombosis and constitutional thrombophilia in an infant]. / Purpura fulminans et thrombose veineuse compatible avec une thrombophilie constitutionnelle chez un nourrisson.

The association of idiopathic purpura fulminans (PF) and venous thrombosis (VT) seldom reveals constitutional thrombophilia in an infant. We report a case of PF in an 18-month-old infant. Laboratory tests showed disseminated intravascular coagulation (DIVC) with normal rates of C and S proteins and antithrombin. The echo-Doppler examination conveyed venous thrombosis of the lower limbs, while the genetic study showed heterozygous mutation of Factor II (G 20210A). Precocious and multidisciplinary management included frozen fresh plasma supplementation and necrosectomy with skin grafts. The diagnosis and therapeutic problems posed by PF combined with deep venous thrombosis are discussed.

PCR-RFLP, sequencing, and quantification in molecular diagnosis of spinal muscular atrophy: limits and advantages.

Spinal muscular atrophy (SMA) is a severe neuromuscular disease. It is a common cause of infant mortality. Its incidence is estimated at 1 in 10,000. Clinically, age of onset and the symptoms can distinguish four types of SMA. The objective of this study is to make available to clinicians a reliable and reproducible test for the molecular diagnosis of SMA. We evaluate the benefits and limitations of three tests used in our laboratory (RFLP-PCR, sequencing, and qPCR).

[Acute disseminated encephalomyelitis associated with herpes virus infection: a case report]. / Encéphalomyélite aiguë disséminée associée à une infection à herpes virus: à propos d'une observation.

Acute disseminated encephalomyelitis (ADEM) is a demyelinating disease of the central nervous system, also called post-infectious encephalitis; it is triggered by an autoimmune mechanism and follows an infection or a vaccination after a free interval of 2 to 30 days. We report a case of ADEM in a 4-year-old girl, who was diagnosed based on the data from a brain MRI, which revealed multiple demyelinization foci in the periventricular white matter, the semi-oval centers, and the thalamic regions, both bilaterally and symmetrically. The clinical course was characterized by complete recovery 10 days after steroid therapy. In the literature, more than the half of the patients treated for ADEM had a good prognosis, with recovery and no sequelae. Clinical improvement is generally noted in the hours or days following the initiation of treatment. However, in the most severe cases of ADEM, the most frequent neurological sequelae consist in focal deficiencies of the limbs and ataxia or visual disorders. Cognitive and behavioral disorders are noted in 6 to 50% of pediatric patients.

[Phenotype-genotype correspondence in spinal muscular atrophy in a Moroccan family]. / Etude de la corrélation génotype-phénotype dans l'amyotrophie spinale infantile (ASI) dans une famille marocaine.

Spinal muscular atrophy (SMA) is an autosomal recessive disorder with a highly variable clinical course and prognosis. We report on the cases of three siblings with SMA. The weakness muscular observes at three siblings but more earlier and severe to the index case with a fast evolution towards respiratory distress syndrome resulting in its death at 5 years. The homozygous deletions of exons 7 and 8 of the telomeric SMN gene were found in all three siblings. No child showed deletion of NAIP gene. Muscular weakness and respiratory distress severity however were different among the siblings. The index patient died at the age of 5 because of respiratory insufficiency. Several molecular mechanisms may be involved in such phenotypic variability. The PCR-RFLP method allows to confirm clinical diagnosis of SMA in children, while avoiding more invasive methods such as EMG and muscular biopsy. However, this diagnostic tool does not allow yet the distinction between different clinical forms of SMA.