Idiopathic Spinal Epidural Lipomatosis: Unusual Presentation and Difficult Management.

Epidural lipomatosis (EL) is a pathology characterized by abnormal accumulation of unencapsulated fat in the epidural space. Although rare, it is a possible cause of lumbosciatica or narrow lumbar canal in adults. It is often associated with favorable factors such as prolonged corticosteroid therapy or obesity. We report an observation of an 18-month-old child who presented with walking delay without other abnormalities, and the radiological exploration confirmed the lumbar epidural lipomatosis. The management was mainly symptomatic, based on motor physiotherapy with additional management in neurosurgery. Various etiologies can cause this disease, remain rare in pediatrics, and the idiopathic form is predominant in children.

Hydropneumothorax Revealing a Pneumoblastoma in Children.

Pneumoblastoma is a rare primary childhood tumor. We report the observation of an infant aged 2 years and 8 months who presented with dry cough and dyspnea. The physical examination found mixed pleural effusion syndrome on the right. The chest X-ray revealed a right pneumothorax. Biology has shown leukocytosis at 16,000/mm3. The CT scan revealed parenchymal air cystic lesions affecting the outer segment of the middle lobe mimicking a pulmonary malformation. Thoracic drainage brought back 100 ml of the fluid. Two months later, when a pyopneumothorax appeared, a medium lobectomy was performed. Pathological study specimen showed a high-grade type II pneumoblastoma The extension assessment identified a secondary hepatic location. Chemotherapy has been indicated. This observation illustrates the diagnosis challenge of pneumoblastoma in children.

[An unusual case of cardiomyopathy showing carnitine palmitoyltransferase deficiency]. / Une cardiomyopathie révélant un déficit en carnitine palmitoyltransférase I: à propos d'un cas inhabituel.

Carnitine palmitoyltransferase deficiencies (CPD) are rare and caused by a defect in fatty acid oxidation. We here report the case of a 10-year-old patient with no particular previous history presenting with acute dyspnea associated with productive cough, fever and impaired general condition. The patient was polypneic with tachycardia, mitral systolic murmur and no sign of heart failure. Chest x-ray showed cardiomegaly and echocardiography revealed hypokinetic dilated cardiomyopathy. Carnitine palmitoyltransferase deficiency was diagnosed. Management was based on treatment for heart disease and strict hypopidic and hyperglucidic diet. Three months later, the patient presented with decompensated heart failure due to infection caused by antibiotic-resistant Aeromonas caviae identified in blood culture. CPD should be suspected in patients with dilated cardiomyopathy. This would enable early management which influences prognosis.

Usefulness of urinary glycosaminoglycans assay for a mucopolysaccharidosis-specific screening.

BACKGROUND: Mucopolysaccharidoses (MPS), a group of inherited metabolic disorders characterized by the accumulation of glycosaminoglycans, can be diagnosed early through newborn screening programs. Establishing newborn screening in Morocco is a challenging task for multiple economic and social reasons. Screening in a Moroccan population using 1,9-dimethylmethylene blue urinary glycosaminoglycan (GAG) assays may allow for an earlier diagnosis of MPS. We studied the feasibility of implementing screening in Moroccan children as an alternative to national newborn screening. We determined the reference ranges for GAGs in the Moroccan population, their stability during transport, the effectiveness of this test as a screening procedure for MPS in patients, and its use as a screening test for MPS in the Imssouane region, where the rate of consanguineous marriage is 38%. METHODS: Using dimethylmethylene blue assays, urine samples of 47 MPS patients were analyzed, together with urine samples from healthy controls (n = 368, age ranging from 1 month to 25 years), and from Imssouane region children (n = 350, age ranging from 6 months to 24 month). Precision, linearity, recovery, limits, and stability were tested. RESULTS: Urinary GAGs reference values are age and ethnicity dependent. The validation parameters established displayed great precision and accuracy leading to recoveries according to internationally accepted values for bioanalytical methods. Urinary GAGs were stable for a maximum of 7 weeks at 40 °C. Screening of Imssouane children resulted in the detection of a 6-month-old child, diagnosed with MPS I. CONCLUSIONS: Our results demonstrate the usefulness of quantifying glycosaminoglycans for early screening of MPS.

[Bird fancier's disease in a child: about a rare and unusual case]. / La maladie du poumon des éleveurs d´oiseaux chez un enfant: à propos d´un cas rare et inhabituel.

Bird fancier's disease falls within the spectrum of hypersensitivity pneumonitis secondary to immuno-allergic reaction to avian antigens. This occurs only rarely in children. It is found in two-thirds of patients with hypersensitivity pneumonitis. Diagnosis is not so easy. It is based on a body of clinical evidence. We here report the peculiar case of a 7-year-old girl with a family history of atopic disease initially treated as asthma based on the presence of wheezing and dyspnea and cough without improvement. The patient had worsening of symptoms such as dyspnea at rest complicated by cyanosis in respiratory distress. All of this took place in a context of alteration of general state. Clinical examination showed growth retardation, perioral cyanosis with digital hippocratism. Lung auscultation revealed bilateral crackling sounds. Chest X-ray objectified bilateral interstitial syndrome. Chest computed tomography (CT) scan showed diffuse ground-glass opacities. Laboratory tests revealed hypereosinophilia with hyper-IgE and excluded tuberculosis, cystic fibrosis, immune deficiency. In a second stage interview contact with birds was reported. Serological tests for bird fancier's disease were positive. The patient received inhaled corticosteroids associated with avoidance of exposure to birds. After a follow-up of 2 months, outcome was favorable. Given that the signs of bird fancier's disease are non-specific, this should be suspected in patients with respiratory symptoms associated with exposure to avian antigens.

[Acceptability of human papilloma virus vaccine: parent survey]. / Acceptabilité du vaccin antivirus du papillome humain: enquête auprès des parents.

This study aims to evaluate the extent of human papilloma virus vaccine awareness among parents of girls in vaccine age group, their acceptability of the vaccine and factors associated with refusal. We conducted a survey among parents of girls aged 8-15 years, followed-up for several diseases in the Department of Pediatrics at the University Hospital Mohamed VI in Marrakech, Morocco, on parents' profile, their awareness of cancer of the cervix, HPV and HPV vaccine, the acceptance of HPV vaccine for their daughters and the arguments related to refusal. Ninety six questionnaires were included in the analysis. Cancer of the cervix was considered frequent for 58% of parents. Only 5% of parents knew about HPV vaccine. Media were the source of information in all cases. Nobody had no idea about the cost of the vaccine and its tolerance. No girl was vaccinated against HPV. Sixty-three per cent of parents want their daughters to be vaccinated, this rate increased by 82% after awareness. Thirteen per cent of the parents were hesitant while 24% refused to vaccinate their daughters mainly due to side effects (51%). Parents refusing vaccine were predominantly males with medium socioeconomic status and cultural level and were unaware of the virus and the vaccine in 91% of cases. This study highlights the reasons for parents' reluctance towards HPV vaccine in order to optimize strategies for effective communication with parents.