Congenital cutis laxa: report of a case

Congenital cutis laxa is a rare hereditary heterogeneous group of disorder of elastic tissue. It is characterized by abnormally loose skin with a reduction in elastic tissue throughout the dermis. Depending on the mode of transmission and phenotypic expression, congenital cutis laxa has been classified in four types: autosomal dominant; autosomal recessive: types I and II and X-linked recessive. We report a new born girl with the autosomal recessive form of congenital cutis laxa associated with visceral abnormalities. The out come for this form was fatal. The most molecular basis for CCL were known but the therapeutic options are still limited

[Lung abscess revealing a congenital cystic adenomatoid lung malformation]

Congenital cystic adenomatoid lung malformations [CCAM] are, todays, more frequently diagnosed during the pregnancy thanks to progresses in ultrasonographic explorations. On occasion, CCAM may remain asymptomatic and be discovered after being complicated by infection. This was the case of our patient. Amani _ was delivered by spontaneous vaginal delivery at term after a well-controlled pregnancy. She had good staturo-ponderal and psychomotor developments. When she was eight-year-old, she was treated for right pneumonia. Three years later, she was admitted in a general pediatrie unit because of right lower lobe abscess. Thoracic computed tomography, indicated since the infection was recurrent in the same lobe and after the constatation of a persistent cystic feature on chest radiograph, revealed multiple cystic lesions compatible with CCAM. The anatomopathological study of the surgically removed lobe concludes for a cystic adenomatoid lung malformation type I. Cystic adenomatoid lung malformations are frequently revealed by recurrent infections in old children. Thoracic computed tomography is very interesting for the diagnosis when pneumonia relapses in the same site

[Canavan disease or n-acetyl aspartic aciduria [one case]]

Canavan's disease [CD] or N-Acetylaspartic aciduria, is an autosomal recessive leukodystrophy characterized by spongy degeneration of brain. The disease is an inborn error of metabolism caused by aspartoacylase deficiency resulting from accumulation of N- acetylaspartic acid in the brain. The authors report a case in a ten-month old boy who presented with developmental delay and megalencephaly noticeable afterfour months of age. Magnetic resonance imaging of the brain show diffuse white matter degeneration. The diagnosis of CD was confirmed by nuclear magnetic resonance spectroscopy and gas chromatography-mass spectrometry

[Cerebral peduncle hydatid cyst.]

The cerebral trunk localization of the hydatid cyst is exceptional. We report the case of a 3-year old girl who has a primary localization of the hydatid cyst on the level of cerebral [peduncle]. Our patient has been admitted with signs of intracranial hypertension. The initial CT scan reveals a triventricular hydrocephaly without an obvious [obstacle] and the magnetic resonance imaging showed a cystic lesion measuring 10 mm located in the mesencephale. This lesion obstructs the Sylvius's aqueduct hence, leading to the hydrocephaly. The patient has benefited from a ventriculo-peritoneal derivation. After 4 months she presented the same symptoms. the magnetic resonance imaging and the scan revealed a lesion measuring 36mm.the patient underwent a new operation and the diagnosis of intracranial hydatid cyst was confirmed with the histopathological examination. Our patient didn't have any other localization and her hydatid serology was negative, too

[Glucose transporteur type 1 deficiency: a mild form]

Glucose transporter type 1 deficiency is a rare but curable disease whose real frequency is probably under estimated. This defect is responsible df reduced glucose brain supply across the blood-brain barrier. We report a mild form of GLUT1 deficiency suspected in al 9 months old boy when low cerebrospinal fluid rate glucose had persisted several months after recovery from presumed viral meningitis. GLUT 1 deficiency should be evoked in any child with delayed milestones development or seizures of unclear cause. The sole effective treatment is based on ketogenic diet

[Listeria monocytogenes meningitis in immunocompetent children. [a case report]]

Introduction: Listeria monocytogenes is, increasingly, recognised as a cause of life-threatening disease mainly in immunocompromised persons, but it is an uncommon cause of bacterial meningitis beyond the newborn period in healthy subjects

Report: We present the case of a 10-year-old previously healthy child who was admitted at a general pediatric unit for high fever, impaired consciousness and intra cranial hypertension syndrome. Cerebrospinal fluid examination revealed 980 cells/mm3 in mixed formula [neutrophils = 50 per cent, lymphocytes = 50 per cent], decreased glycorrachia [1.5 mmol/l], increased albuminorrachia [2g/l] and normal chlorurachia. Gram's stain was negative. initial parenteral antibiotics combining cefotaxime and vancomycin didn't lead to clinical improvement. In fact, after 48 hours, the temperature was usually high and the patient remained obnubilated and, also, developed bilateral convergent strabismus. The second cerebrospinal fluid sample showed lymphocytic meningitis [125 cells/mm3, neutrophils = 5 per cent, lymphocytes = 95 per cent], decreased glycorrachia [0.5 mmol/l], increased albuminorrachia [1.2 g/l], normal chlorurachia and negative soluble antigens. Gram's stain showed Gram positive bacilli. Subsequent culture yielded Listeria monocytogenes. The patient was so treated with parenteral ampicillin for fifteen days and showed uneventful recovery. No immunocompromised conditions were identified in this patient

Discussion: In its most severe form, listeriosis is an invasive disease that affects not only immunocompromised but also immunocompetent persons in whom the neuromeningeal form is the most frequent

Conclusion: L. monocytogenes should be considered among the aetiologies of bacterial meningitis in children who do not respond initially to conventional antimicrobial treatment or who deteriorate rapidly even if they are immunocompetent and non-neonates

[Kaposi-juliusberg's syndrome complicating atopic dermatitis]

Kaposi-Juliusberg dermatitis is a severe infection of the skin caused by herpes simplex virus. It occurs, most often, in the presence of another skin disease such as eczema. We report the case of a 12 month old boy who was previously examined for atopic dermatitis treated by topic steroids. He was admitted in a general pediatric unit for a diffuse vesicular and ulcero-necrotic eruption which was extremely severe and hemorrhagic in the face. Buccal mucosis was also ill. The lesions were accompanied by high fever and wirse general state. Kaposi's dermatitis was highly suspected and the boy was so treated with parenteral Zovirax and topic product for three weeks. An uneventful recovery within one month

[ leucinosis-Study of seven cases]

Maple syrup urine disease [MSUD] is an antosomal recessive metabolic disorder caused by decreased activity of this branched chain alpha-ketacid dehydrogenase. Work object is to clear the clinical, therapeutical and evolutive characteristics of this disease, through a retrospective study of seven patients identified over a 12 years period in Kairouan Pediatric department. The mean age of diseasis revelation was 7 days [2 to 12 days]. The consanguinity was found in 5 cases, neurological diseas dominate the clinical manifestations. The DNPH test was positive in five cases. The diagnosis was confirmed by the AAC in blood and OAC in urines. All the 7 new born died in a mean age of 21 days. The light incidence, problems of management and the poor prognosis underline the improtance of antenatal diagnosis