Pyridoxine-dependent epilepsy: A novel mutation in a Tunisian child.

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive metabolic disease characterized by seizures in neonates or infants, which is unresponsive to antiepileptic drugs but controlled by pyridoxine. Without prompt treatment, continued seizures and severe encephalopathy result. Mutations in the ALDH7A1 gene encoding α-amino-adipic semialdehyde (α-AASA) dehydrogenase (antiquitin) have been identified as the cause of PDE. We report on a novel ALDH7A1 mutation in a Tunisian child with PDE.

[Acute disseminated encephalomyelitis in Tunisia: Report of a pediatric cohort]. / Encéphalomyélite aiguë disséminée en Tunisie: étude d'une cohorte pédiatrique.

INTRODUCTION: Acute disseminated encephalomyelitis (ADEM) is an inflammatory, demyelinating disorder of the central nervous system whose clinical features, management and outcome are incompletely understood in Tunisian population. OBJECTIVE: To describe clinical, neuroimaging and laboratory features; treatment and outcome in a cohort of Tunisian children with ADEM. METHODS: We conducted a retrospective review of the medical records of all children attending the Department of Child and Adolescent Neurology (Tunis) with ADEM between 2005 and 2015. Clinical, neuroimaging and laboratory features, therapeutic data and outcome were analyzed. RESULTS: There were 15 children (7 males and 8 females). The mean age at onset was 6.9 years. Thirteen (86.6%) patients had a prodromal event. The onset of neurological symptoms occurred within 17.6 days (4-30). Limb weakness was the most common presenting symptom (53.3%). Extrapyramidal syndrome was noticed in 6 patients (40%). Initial MRI showed a deep gray matter involvement in 7 cases (46.6%). Gadolinium enhancement at acute stage was observed in only 2 patients (13%). Cerebrospinal fluid findings did not show intrathecal oligoclonal bands. The use of high-dose IV methylprednisolone followed by oral steroid taper was associated with rapid recovery. Additional treatment with intravenous immunoglobulin was necessary in 2 patients. Complete recovery was obtained in 11 patients (73.3%). A monophasic course was noticed in 14 cases. Only one patient (5%) developed multiple sclerosis. CONCLUSION: The high frequency of prodromal events and extrapyramidal syndrome in addition to the low rate of gadolinium enhancement at acute stage seem to be the main features in our patients. Larger ADEM multicenter cohort studies in Tunisia and North Africa could provide more detailed information about this entity.

[Epidemic of rubella encephalitis]. / Encéphalite rubéolique : observation récente d'une fréquence inhabituelle.

Rubella is a mild viral illness in children. Rubella encephalitis is an extremely uncommon complication of rubella affecting unvaccinated children, aged between 5 and 14 years. From May to June 2011, we observed 9 cases of rubella encephalitis diagnosed during an epidemic of rubella. All were previously healthy (8 boys and 1 girl). None of them had received rubella vaccine. The mean age was 11.6 years. The onset of neurological symptoms occurred within 1-5 days after the typical rush and was associated with seizures and altered consciousness in all cases. The presence of serum immunoglobulin M antibody against rubella virus was demonstrated in all patients. EEGs showed slow wave activity in all patients and brain MRI was normal in the 9 cases. Full recovery was obtained in all patients. However, 4 of them required intensive care unit referral. Acute encephalitis is an extremely rare complication of rubella. The main neurological findings are headache, ataxia, and hemiplegia. Epileptic seizure and altered consciousness are rarely observed. Rubella encephalitis is generally self-limiting with about 80% recovery rate with no sequelae. However, severe courses have been reported. These cases illustrated the potential severity of rubella and they should be prevented by encouraging widespread early childhood vaccination. In Tunisia, rubella encephalitis has been reported once previously and vaccination against rubella virus has only recently been included in the national vaccination program, prescribed only for adolescent females. Following this rubella epidemic, vaccination strategies in Tunisia have been revised.

[Congenital stenosis of interventricular foramina revealed by recurrent intracranial hypertension]. / Une sténose congénitale des foramens interventriculaires révélée par une hypertension intracrânienne à rechute.

Non-tumoral stenosis of interventricular foramen is a rare clinical condition. It can be either unilateral, causing monoventricular hydrocephalus, or bilateral leading to biventricular hydrocephalus. The pathophysiology of this misdiagnosed entity remains controversial. The non-tumoral stenosis of interventricular foramen can be either acquired or congenital. The latter usually manifesting with a neonatal hydrocephalus. We report a case of congenital bilateral stenosis of interventricular foramen, in an 8-year-old girl, revealed by recurrent intracranial hypertension. Diagnosis was relied on 3D-CISS sequences MRI. The child showed full recovery after neuroendoscopic septal fenestration and ventriculo-peritoneal shunt.

First detection of CTX-M-28 in a Tunisian hospital from a cefotaxime-resistant Klebsiella pneumoniae strain.

A cefotaxime-resistant Klebsiella pneumoniae ML4313 was obtained from a patient from intensive care unit of Military hospital in Tunisia. This strain was resistant to beta-lactams, aminoglycosides, quinolones and phenicols, and tetracyclines. It was identified as producer of extended-spectrum beta-lactamases (ESBL) by double-disk synergy test between amoxicillin-clavulanate and cefotaxime, ceftriaxone, ceftazidime and aztreonam. The ESBL was identified as CTX-M-28 by sequencing of PCR products and by isoelectric focusing. The ESBL resistance was transferred by a 50kb plasmid. CTX-M-28 is closely related to CTX-M-15. This is the first description of this enzyme in Tunisia.

Identification of plasmid-encoded extended spectrum beta-lactamases produced by a clinical strain of Proteus mirabilis.

Emergence and dissemination of multiresistant strain of Proteus mirabilis have made infections treatment more difficult that this bacterium is responsible. The aim of this study is to determine the implication of the enzymatic mechanism and to describe the properties of ESBLs (extended spectrum beta-lactamases). A clinical strain of Proteus mirabilis SM514 isolated in the intensive care unit at the Military hospital in Tunisia during the period 2004 was found to be highly resistant to cephalosporins and penicilins. Cells sonicate of the isolate hydrolysed cefotaxime more efficiently than ceftriaxone and ceftazidime and had three beta-lactamases bands of approximate of isoelectric points (pI) of 5.4; 5.6 and superior to 7.6. The specific activities (AS) vary from 5.26 to 7.77U/mg of protein respectively for cefotaxime and the benzylpenicillin. These activities are inhibited by the clavulanic acid and the sulbactam. The values of the IC(50) are respectively 3.7 and 11.7muM. Only the beta-lactamases of pI 5.4 and superior to 7.6 hydrolyze the cefotaxime. Transformant produces the ESBLs of pI 5.4; 7.45 and greater than 7.6. The genes coding for this enzymes are carried by a transferable plasmids.

WITHDRAWN: [Clinical strain of Proteus mirabilis able to produce a plasmid mediated ceftazidimase.] / Identification d'une ceftazidimase plasmidique produite par une souche clinique de Proteus mirabilis.

Resistance to third generation cephalosporins due to the acquisition and expression of extended spectrum beta-lactamases (ESBLs) enzymes among Gram negative bacteria continue to pose a challenge to infection management worldwide. The aim of this study was to determine the implication of the enzymatic mechanism and to describe the properties of ESBLs from a clinical strain of Proteus mirabilis NC4150 isolated in the intensive care unit at the Military Hospital in Tunisia during the period 2004. The isolate was identified, tested for antimicrobial susceptibility and analysed for presence of ESBL genes. Two beta - lactamases which confers a multirésistance on antibiotics including the oxyimino beta-lactams were identified. Isoelectric points of these two beta-lactamases are 5.4 and 5.7. The specific activities (AS) vary from 0.2 to 36.27 U/mg of protein respectively for ampicilline and the ceftazidime. These activities are inhibited by the clavulanic acid and the sulbactam. The values of the IC 50 are respectively 16 muM and 2.4 mu M. Only the beta - lactamase of pI 5.7 hydrolyze the ceftazidime. Transformant and transconjugant produces only the ESBL (extended spectrum beta-lactamases) of pI 5.7. The gene coding for this enzyme is carried by a transferable plasmid named pNC4150.

[Vertebral actinomycosis with spinal cord compression. A case report]. / Actinomycose vertébrale avec compression médullaire. A propos d'un cas.

INTRODUCTION: Vertebral involvement of actinomycosis is extremely rare and associated spinal cord compression is unusual. EXEGESIS: We report a case of a 31-year-old man with vertebral actinomycosis presenting with spinal cord compression. Magnetic resonance imaging demonstrated a paravertebral abscess and lytic areas on the vertebral body of C5 requiring emergency surgery and antibiotic treatment. The patient was still asymptomatic after 12 months of follow-up. CONCLUSION: Clinical aspects of this unusual localization are reviewed. Treatment may be particularly difficult.