Congenital Arhinia: A Neonatal Case Report.

Congenital arhinia or nasal absence is a rare condition, with only less than 100 cases published in the literature to date. It is a rare condition that causes respiratory distress during the neonatal period. Although stabilization of the airway is the priority, management is not clearly defined, given the rarity of the malformation. We report a case of arhinia in a female newborn and briefly review the literature.

Arabic adaptation of the Edinburgh cognitive and behavioural Amyotrophic lateral sclerosis screen (ECAS-AR).

Current screening batteries for assessing neuropsychological function are not specific for Amyotrophic Lateral Sclerosis (ALS) and are considered as limited tools due to the physical disabilities associated with ALS. The Edinburgh Cognitive and Behavioural ALS screen (ECAS) was developed to detect the specific cognitive and behavioral changes that may occur among ALS patients. This study presents the ECAS developed for Arabic-speaking ALS patients (ECAS-AR) for use by healthcare professionals. ECAS was translated and modified to refined variety of Arabic language. Eighty-five ALS patients were included. Normative data were collected from 200 healthy controls (among them 97 were matched). Subjects were administered the ECAS-AR and two conventional cognitive screening batteries, Frontal Assessment Battery (FAB) and Mini-Mental State Examination (MMSE). ECAS-AR discriminated well between healthy controls and ALS patients. Significant differences were noted in language, executive functions, memory, and visuospatial domains between the two groups. The most prevalent deficit occurred in language and executive functions in ALS-specific functions. Whereas memory was more readily impaired in the lower and middle education groups concerning ALS non-specific functions. Verbal fluency tended to be preserved. Positive correlations were found between ECAS-AR and the standard cognitive tests supporting its full validity. The ECAS-AR version proposed will provide rapid, efficient and sensitive tools for healthcare professional to determine the cognitive-behavioural profile in Arabic-speaking ALS patients.

Clinical predictors of disease progression in a cohort of Tunisian progressive Multiple Sclerosis.

BACKGROUND: Knowledge about progressive Multiple Sclerosis (MS) is mainly based on Caucasian studies. In our North-African context, MS exhibits particular characteristics that are mainly related to a more severe phenotype. Given the limited data available, there is an imminent need to characterize progressive MS in our latitudes. OBJECTIVE: To describe the specificities of progressive MS and identify the inherent clinical predictors of disability accrual with a Tunisian cohort. METHODS: A retrospective, hospital-based study was conducted in the department of neurology of Razi hospital. Patients, who had been diagnosed with MS, were divided into relapsing MS (RRMS), secondary progressive MS (SPMS) and primary progressive MS (PPMS). Epidemiological, clinical and paraclinical data were compared among the three groups. RESULTS: Of the 504 patients, a progressive MS was described among 115 patients. This percentage of (22.8%) is divided into 13.9% SPMS and 8.9% PPMS. During the first clinical attack, motor symptoms have revealed to be predominant during PPMS (91.1%). For SPMS onset, the median time was 10 years, and was significantly delayed for patients with visual onset or full recovery from the first relapse. Patients with progressive MS exhibited a more rapid disability accumulation. CONCLUSION: Compared to Caucasians, Tunisians exhibited a faster rate of conversion to SPMS. According to our natural progressive MS history, early clinical features are predictors of MS disability accrual.

Multiple sclerosis 2017 McDonald criteria are also relevant for Tunisians.

BACKGROUND: Validation of the 2017 revised McDonald criteria was based on data from Caucasians. Among North Africans, Multiple Sclerosis prevalence, clinical phenotype and differential diagnosis are different. Hence, verifying the relevance of the latest revised criteria applied in North Africans was recommended. The aim of our study was to investigate the applicability and reliability of the revised 2017 McDonald criteria, compared to the 2010 version, with the relevance to the diagnosis of Multiple sclerosis in a Tunisian cohort. METHODS: Data from patients, with a typical clinically isolated syndrome, were re-analyzed retrospectively. Also, clinical, immunological and imaging characteristics were reviewed, according to the 2010, then 2017, McDonald criteria. Sensitivity, specificity, accuracy, positive predictive value and negative predictive value were evaluated to analyze the impact of the new criteria in everyday clinical practice. RESULTS: A total of 98 patients were included. Eighty-eight patients developed a definite Multiple Sclerosis, while ten had a different diagnosis. With relevance to the 2010 criteria, 41 patients (42%) were diagnosed with Multiple Sclerosis, after the first clinical attack. The 2017 revised criteria allowed to diagnose 32 more cases (73 patients = 74%). Sensitivity of the 2017 criteria was higher (77% versus 44%), but specificity was lower (33% versus 63%). CONCLUSIONS: Compared to the 2010 version, the 2017 McDonald criteria highlighted higher sensitivity, but lower specificity for Tunisians.

Management of esophageal atresia and early predictive factors of mortality and morbidity in a developing country.

The aim of this study is to investigate management and outcome in esophageal atresia (EA) and to identify early predictive factors of morbidity and mortality in a developing country. Charts of neonates with repaired EA from 2007 to 2016 were reviewed. Patients' characteristics, operative details, and postoperative outcomes were collected. Statistical analyses were performed to identify predictors of complicated evolution. Forty-two cases were collected. There were 14 girls and 28 boys. Only one patient had antenatal diagnosis (2.3%). The mean gestational age was 38 weeks. Nine patients (21.4%) weighed less than 2.5 kg. Seventeen (40.4%) patients had associated malformations most commonly cardiac (9/17). Thirteen patients had delayed diagnosis (30.9%). Thirty-nine (92.8%) patients underwent primary esophageal anastomosis. Overall survival was 76.2%. Nineteen patients (57% of survivals) had complicated evolution before the age of one year and 15 patients (46.8% of survivals) developed complications after the age of one year. Perinatal variables associated with mortality were prematurity (p = 0.004, OR = 5.4, IC95% = [1.13-25.80]), low birth weight (p = 0.023, OR = 7, IC95% = [1.38-35.47]), cardiac malformations (p = 0.006, OR = 10.5, IC95% = [2.03-54.27]) and delayed diagnosis (p = 0.005, OR = 10.11, IC95% = [2.005-50.980]). Variables associated with short-term and middle-term complications were duration of intubation (p = 0.019, OR = 0.118, IC95% = [0.019-0.713]) and the presence of short-term complications (p = 0.016, OR = 7.33, IC95% = [1.467-36.664]) respectively. These factors may be used to identify patients who will benefit from more intensive follow-up program.

Paraneoplastic opsoclonus-myoclonus-ataxia syndrome revealing dual malignancy.

Dual malignancy has been rarely associated to paraneoplastic syndromes. We describe an unusual case of metachronous small cell lung carcinoma revealed by opsoclonus-myoclonus ataxia syndrome in a 69-year-old patient with known prostate adenocarcinoma, with positive anti-Hu and anti-Yo antibodies and good responsiveness to corticosteroids and chemotherapy.

[Neonatal lupus and maternofetal transmission of anti-SSA/Ro and anti-SSB/La antibodies]. / Lupus néonatal et transmission materno-fœtale des anticorps anti-SSA/Ro et anti-SSB/La.

Neonatal lupus (NL) is a rare syndrome caused by placental transfer of maternal anti-SSA/Ro (60 and 52kDa) or anti-SSB/La antibodies. The aim of this study was to evaluate the clinical and biological profile of NL at the neonatal unit of Sfax, Tunisia, over a 10-year period. Six mother-NB pairs (two sets of twins and two sisters) had positive ANA by transplacental transmission during the study period. The ANA pattern was speckled and the NBs' sera titer was half that of their mothers'. Anti-SSA, anti-Ro52, and anti-SSB were found in 100%, 33%, and 50% of the mothers' sera, respectively. The transmission of anti-SSA was observed in four pregnancies out of six, anti-Ro52 in two pregnancies out of two, and anti-SSB in one pregnancy out of three. The patients' clinical records showed that two NBs had a congenital heart block: one with anti-SSA, whose mother had Sjögren syndrome, and another with anti-SSA, anti-SSB, anti-Ro52, and anti-mitochondrial antibodies (M2 type), whose mother had no diagnosis at the child's birth (cutaneous erythema and positive ANA with the same profile). Cutaneous signs (erythema, petechia) were described in three NBs out of six. The two sets of fraternal twins had cutaneous signs with the same ANA titer and profile (no anti-SSA transmission from their mother with lupus and anti-phospholipid syndrome). The two sisters' (two pregnancies 3 years apart) mother had Sjögren syndrome, one of them had heart block with positive anti-SSA, and the other was asymptomatic with anti-SSA and anti-Ro52. The same mother had a history of three pregnancies with two NBs who died of heart block.

[Intrauterine upper limb ischemia due to a heterozygous mutation (677C>T) of the methylene-tetrahydrofolatereductase gene]. / Thrombose artérielle in utero des membres supérieurs liée à une hétérozygotie pour le polymorphisme 677C>T de la méthylène-tétrahydrofolate-réductase : à propos de 2 cas.

Limb ischemia rarely occurs in utero. The diagnosis can be made by clinical observation at birth or a few hours later. Color duplex ultrasound is the first imaging test used to confirm the diagnosis. The etiology appears to be complex and multifactorial. We report 2 cases of intrauterine limb ischemia involving the upper limb in 2 newborns. Both children were heterozygous for the 5,10-methylenetetrahydrofolate reductase 677C>T gene variant. The first patient was born by caesarean section at 34 weeks of gestation. At delivery, the infant presented with pallor in his right upper limb and weak radial arterial pulsation. Doppler ultrasound and computed tomography angiography demonstrated a totally occlusive thrombus within the right brachial artery. The newborn underwent systemic thrombolysis with good recovery. The second patient was born via cesarean section at 37 weeks of gestation. At delivery, the infant presented with a motionless, cold, and gangrenous right upper limb. The demarcation line was just below the right elbow. Doppler ultrasound revealed a complete occlusion of the right subclavian artery. After failure of antithrombotic therapy, the limb was amputated with no further complication. We discuss the epidemiology, etiology, and clinical features of this rare pathology.

[Neonatal cervical artery dissection secondary to birth trauma]. / Dissection artérielle cervicale néonatale secondaire à un traumatisme obstétrical.

Cervical artery dissection is rare in the neonatal period and is most often caused by birth injury during dystocic labor. The severity of this pathology is due to the possibility of serious neurological complications. We report a case of a male newborn who was born vaginally after shoulder dystocia. The extraction was difficult, resulting in a fracture of the right humerus. On the second day of life, the child presented generalized clonic convulsions. Computed tomography of the brain showed an ischemic stroke in the territory of the right middle cerebral artery, the territory of the right posterior cerebral artery, and the right lenticulostriate and capsular regions. Doppler ultrasonography and magnetic resonance angiography showed bilateral carotid artery thrombosis and dissection at the left common carotid artery and its two branches and the right vertebral artery. We discuss the mechanisms of this pathology and we emphasize preventive measures.

Antepartum detection of macrosomic fetus: the effect of misdiagnosis.

AIM: To determine the effect of misdiagnosis of macrosomia on maternal and perinatal outcomes. METHODS: We conducted a retrospective study ,between January 2007 and December 2008 of women (n = 464) who delivered singleton neonates with actual birth weight over 4000g and in whom fetal weight was estimated, by both methods :sonographic and clinical, up to 3 days before delivery.Statistical comparisons were made between patients in whom fetal macrosomia was predicted : «prediction ¼ group (n=336)and those in whom it was not « non prediction ¼group (n=128) for outcome variables. RESULTS: The cesarean delivery was performed in 35.9% in « non predicted ¼ group, and in 35.7% in the « predicted ¼ group.The difference was not statistically significant. Failure to detect macrosomia was associated with higher rates of maternal and fetal complications in the group « non predicted ¼ compared with the group « predicted ¼ :perineal trauma,post partum hemorrhage, 5- minute Apgar scores less than 7, and shoulder dystocia, mostly related to the higher rate of surgical vaginal deliveries. CONCLUSIONS: The misdiagnosis of fetal macrosomia substantially did not modify the cesarean section rate but leads to increase the maternal and neonatal complications.

[North African and Southeast Asian nasopharyngeal carcinomas: between the resemblance and the dissemblance]. / Le carcinome nasopharyngé en Afrique du Nord et dans le Sud-Est asiatique: entre similitude et différence.

Nasopharyngeal carcinoma (NPC) is an unusual head and neck cancer because of its unequal geographical distribution and its consistent association with the Epstein-Barr virus (EBV). This malignant tumor poses a serious public health problem in many countries, especially in Southeast Asia and North Africa where the recorded incidence are highest. During the past decade, a growing number of studies were undertaken to define the molecular basis of NPC. However, the analysis of several clinical and biological parameters of North African and Southeast Asian NPCs has shown notable differences, suggesting that they could result from a distinct combination of etiological factors. One intriguing characteristic of North African NPC, concerns its bimodal age distribution with a secondary peak of incidence in the range of 15-25 years, not observed in Asian NPC. In this juvenile form of NPC, immuno-histochemistry assay has shown that the two key proteins controlling the apoptotic-survival balance p53 and Bcl-2 are less frequently expressed whereas the transmembrane tyrosine-kinase receptor c-kit and the main EBV oncoprotein LMP1 were more abundant. In addition, the EBV serological alterations are less informative for the diagnosis of the juvenile compared to the adult form. In addition, most North African NPCs contain EBV strains with genetic polymorphisms distinct from those described in the Southeast Asia series (predominance of F, D, H1-H2, XhoI+ and f, C, H, XhoI- respectively). In contrast, studies relating on tumor chromosomal alterations or aberrant promoter methylation result in data very similar to those obtained from the Southeast Asia series, supporting the concept of a common molecular basis for all NPC regardless of patient geographic origin.

[Congenital nasal pyriform aperture stenosis]. / Sténose congénitale de l'orifice piriforme.

INTRODUCTION: Congenital nasal pyriform aperture stenosis (CNPAS) is a rare and an unusual cause of airway obstruction in newborns. OBSERVATION: We report the case of a female neonate delivered by C-section at 39 weeks of amenorrhea for hydramnios and macrosomia. She presented with mandibular retrognathia, nasal saddling, submucous cleft palate, and loud mouth respiration. She presented with cyanosis every time feeding was attempted. CT revealed permeable choans with a single central incisor and nasal pyriform aperture stenosis. Nasal respiration returned to normal progressively after 56 days of hospitalization. The status was unchanged at 5 months. DISCUSSION: CNPAS is a rare cause of congenital nasal obstruction. It is sometimes associated to a median incisor syndrome. The diagnosis should be made as early as possible for an optimal management. Cyanosis and swallowing disorders may be lethal consequences. Associated abnormalities should be screened for with TDM or MRI. The treatment depends on the severity and may be surgical for a severe stenosis. The prognosis is good if no severe malformation or mental retardation is associated.

Delineation of Pseudomonas savastanoi pv. savastanoi strains isolated in Tunisia by random-amplified polymorphic DNA analysis.

AIMS: To investigate the genetic diversity of Pseudomonas savastanoi pv. savastanoi strains and to look whether these strains were distributed to geographical location. METHODS AND RESULTS: Random amplification of polymorphic DNA (RAPD) was used to discriminate between 58 Tunisian strains and 21 strains from various other countries of P. savastanoi pv. savastanoi, the causal agent of olive knot disease. Isolates were separated into three groups by cluster analysis and principal coordinate analysis of RAPD fingerprint data obtained with three primers (OPR-12, OPX-7 and OPX-14). Group 1 contained isolates from the southeast of Tunisia and European strains. Group 2 comprised strains isolated from the north of Tunisia exclusively while group 3 encompassed the majority of isolates obtained from five orchards located in the centre of Tunisia. CONCLUSIONS: The results indicated that isolates of P. savastanoi pv. savastanoi were genetically distinct according to geographic regions. RAPD grouped isolates derived from the same orchard as identical. SIGNIFICANCE AND IMPACT OF THE STUDY: This is the first application of RAPD in the delineation of P. savastanoi pv. savastanoi strains.

[Pulmonary function in children after neonatal meconium aspiration syndrome]. / Fonction respiratoire des enfants ayant des antécédents d'inhalation méconiale.

BACKGROUND: Meconium aspiration syndrome is a disease of the newborn mature or post mature. The acute pulmonary consequences can be extremely severe. In the few studies of the long-term pulmonary sequelae, it seems that certain children surviving meconium aspiration syndrome keep an obstructive syndrome. The aim of our study was to assess long term respiratory residual damage from meconium aspiration syndrome. METHODS: During a seven-year period going from 1994 to 2000, we reviewed the files of children hospitalized in neonatology department of Sfax for meconium aspiration syndrome. The children who were convoked (group M: n=27), underwent spirometry, followed by an exercise stress. An age matched control group (group C: n=23) of healthy children was investigated in the same way. RESULTS: The group M comprised 15 boys and 12 girls aged four to 11, an average of 7+/-1.9 years. With the study of the respiratory function, we did not find an obstructive syndrome. Spirometry revealed a total pulmonary capacity in an average of 133+/-55.65% of theoretical (group M) versus 105.5+/-27.96% of theoretical (group C) (P<0,01), testifying to alveolar hyperinflation. Spirometry fulfilled 5, 10 and 15 min after exercise showed a FEV1 reduction of respectively 8.5 versus 2 (P<0.05); 9.5 versus 3 (P<0.01) and 10.5 versus 4 (P<0.05). CONCLUSION: Children surviving meconium aspiration syndrome tend to develop alveolar hyperinflation and airway hyperreactivity to exercise.