Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report.

Background: Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development characterized by numerous developmental anomalies that are restricted to the head and neck. Most TCS cases are inherited in an autosomal dominant manner. The diagnosis of TCS relies on clinical and radiographic findings. The four genes involved in TCS are TCOF1, POLR1D, POLR1C, and POLR1B. Case presentation: In this report, we present the case of a 7-year-old Moroccan boy who exhibited distinctive dysmorphic features, including coloboma and zygomatic bone hypoplasia. Upon genetic analysis, a mutation in the TCOF1 gene was identified, conclusively confirming the presence of Treacher Collins Syndrome. It is worthy that the correct etiological diagnosis was significantly delayed due to the initial misperception that the observed malformation syndrome was a result of drug teratogenicity. Conclusions: This case highlights the importance of seeking pharmacovigilance advice if any adverse event occurs following medication use. Furthermore, requesting a genetic consultation to establish a confirmed etiological diagnosis for any malformation syndrome can significantly reduce the protracted social and psychological suffering that patients and their families may endure.

Détermination des concentrations plasmatiques de l'isoniazide et la rifampicine chez les patients sous antituberculeux

Introduction : La tuberculose est un problème de santé publique dans le monde entier. Son traitement est basé sur quatre antituberculeux majeurs dont l'isoniazide et la rifampicine qui ont bouleversé le pronostic de cette maladie. L'objectif de cette étude était de montrer l'apport du suivi thérapeutique pharmacologique dans la prévention des échecs thérapeutiques en cas de sous-dosage et de toxicité en cas de surdosage.Matériels et méthodes : Il s'agit d'une étude rétrospective faite à l'Hôpital Moulay Youssef et le laboratoire de toxicologie et de pharmacologie du centre anti-poison et de pharmacovigilance du Maroc sur une période de 9 mois, et menée sur 142 patients ayant tous bénéficié d'un suivi thérapeutique pharmacologique de l'isoniazide et la rifampicine. Les dosages étaient réalisés par chromatographie liquide haute performance après extraction liquide-liquide. Résultats : Notre étude a montré qu'à dose thérapeutique, 78,2% des patients tuberculeux avaient des concentrations plasmatiques de rifampicine au-dessous de la fourchette thérapeutique et 35,4% des patients avaient des concentrations plasmatiques d'isoniazide au-dessus de la fourchette thérapeutique.Conclusion : Dans le cadre du traitement antituberculeux, le recours au suivi thérapeutique pharmacologique permet aux cliniciens

[Description of poisoning reported in Marrakech-Tensift-Al Haouz region in Morocco between 1981 and 2008]. / Description des intoxications notifiées dans la région de Marrakech-Tensift-Al Haouz au Maroc entre 1981 et 2008.

In Morocco, the Marrakech-Tensift-Al Haouz region is one of the 16 regions most affected by poisoning. The aim of this study was to determine the epidemiological profile of poisoning recorded in the study region. A retrospective study of poisoning cases, declared between 1981 and 2008 in the Morocco Poison Control and Pharmacovigilance Center, was conducted. During the study period, 8517 poisoning cases were collected. The average age of patients was 22 ± 15 years. The male/female sex ratio was 0.85. Food poisoning was the most reported in the region, with 26.6% of cases. Among the 2,779 patients for whom the outcome was known, 65 died, with lethality rate of 23.4‰. The maximum lethality rate was recorded among those poisoned by paraphenylenediamine (170.7‰).

[Peganum harmala L. poisoning and pregnancy: two cases in Morocco]. / Intoxication au Peganum harmala L. et grossesse : deux observations marocaines.

Peganum harmala L. (wild or Syrian rue) is commonly used as an emmenagogue and abortifacient in traditional medicine in the Middle East and North Africa including Morocco. The purpose of this report is to describe two cases of Peganum harmala L. poisoning in pregnant women. Both cases were treated successfully with good maternal-fetal outcome good for mother and child.

Epidemiological profile of snakebites in Morocco

The present work aims to find the epidemiological profile of snakebites in Morocco through a retrospective study of 1,423 snakebite cases that occurred between 1992 and 2007. Data were obtained from medical charts of envenomation at the Poison Control and Pharmacovigilance Center of Morocco. Results revealed that 86 percent of the snakebites had occurred in rural areas and that males were significantly more affected than females at a sex ratio of 23:20. Furthermore, 35 percent of the bites happened during the summer, with a peak of 215 cases in June (15.1 percent). We also discovered that 67.3 percent of the patients were bitten during the day. The age group that comprised the most agriculturally active persons, from 20 to 44 years old, was the most affected by snakebites (551 cases). In terms of evolution, patients who were at least 60 years of age (8.89 percent) as well as those who were less than 10 years old (7.50 percent) presented higher mortality. According to clinical severity grades, the data revealed a 70 percent predominance of grade 2 cases (430). Deaths had occurred only in patients with grades 3 and 4. Furthermore, grade 4 patients presented 100 percent mortality whereas grade 3 registered 10.7 percent. The distribution of snakebites according to administrative regions in Morocco showed a predominance of the Souss-Massa-Daraa region both in terms of frequency (32 percent) and mortality (72.1 percent). Our study clearly displayed the severity and extent of the snakebite problem in the country, thus revealing that public health authorities should give more attention to this serious situation.(AU)

Epidemiological and clinical characteristics of scorpion stings in children in Fez, Morocco

Scorpion stings are a public health problem in Morocco, especially among children, who experience the most severe cases. Epidemiological and clinical findings on scorpion stings in Fez, Morocco, were evaluated in this investigation. Of 163 cases that required medical attention, 62.6 percent were male children. The mean age of patients was 4.8 ± 3.4 years. The mean time between stings and first medical attention was 3.36 ± 2.5 hours. Almost all cases occurred in the summer (94 percent) and extremities represented the most frequent sting sites (86.5 percent). Local pain, hyperemia, scarification, vomiting, sweating, restlessness, tachycardia and tachypnea were the observed clinical symptoms. Regarding severity, 55.2 percent of patients belonged to class III, followed by class II (26.4 percent) and class I (18.4 percent). None of our patients received antivenom; however, all of them were treated symptomatically depending on clinical manifestations.(AU)

[Management of scorpion sting in Morocco]. / Conduite à tenir devant une piqûre de scorpion au Maroc.

Scorpion stings are the first cause of poisoning, and represent between 30 and 50% of all cases reported to the Moroccan Poison Control Centre. Concerned by the size of the problem, we have paid special attention to this pathology. Through retrospective and prospective studies, it has been possible to determine the nature and the chronology of clinical stages, as well as the epidemiological, clinical and therapeutic factors of gravity. On this basis, we worked out a new management to provide support for patients. This management will standardize support provided at the national level, and will reduce the number of lethal case and rationalize spending by reviewing medication, transfer of patients and hospital care. This standardization is an essential component of the national strategy against scorpion poisoning. Other components include training of medical staff, awareness campaigns, and information systems to monitor lethal cases. A survey over five years shows a reduction in the number of lethal cases and rationalization of costs. Medical care provided rests upon the distinction between patients stung by scorpions and patients actually poisoned. The first category of patients will be monitored up to four hours after the scorpion sting, while poisoned patients will be transferred to an intensive care unit.

Risk factors caused by scorpion stings and envenomations in the province of Kelâa Des Sraghna (Morocco)

The present study aims to elucidate the risk factors involved in deaths caused by scorpion envenomation. A retrospective study was carried out in the province of Kelâa des Sraghna from 2003 to 2004. The hospital charts of scorpion envenomation cases treated in the Essalama Hospital in Kelâa des Sraghna were exhaustively analyzed. Our study contains 31 cases of death among 470 hospitalization cases. Most stings had occurred during the hot period peaking in July and August (54.6%). Moreover, the scorpion stings occurred at night in 60.1% of the cases, between 6:00 pm and 6:00 am. In addition, all age groups were affected by envenomation, with a higher frequency in children aged less than 15 years (68.3%). The envenomation rate (class II + class III) was 70.9%. The statistical analysis of the data shows that being less than 15 years old, having been stung during the night and belonging to class III are risk factors that aggravate vital prognosis of hospitalized patients. Furthermore, clinical severity factors, elicited by relative risk analysis, are cardiovascular, respiratory and neurological vital distresses, with relative risks of 14.84, 11.92 and 48.33, respectively. The results of our study clearly displayed the severity and extent of the scorpion envenomation problem. Thus, great attention must be paid to this region of Morocco by the national health authorities.(AU)

Scorpion sting: a public health problem in El Kelaa des Sraghna (Morocco)

The present study aimed at verifying the impact of a Moroccan strategy against scorpion stings and specifically at identifying the epidemiological features of patients envenomed or just stung by scorpions. It included 11,907 patients from El Kelaa des Sraghna Province, Morocco, who were evaluated over five years (2001-2005). Most stings occurred during the hot period and mainly at night. The average incidence was 3.2 per 1,000 inhabitants; patients <15 years accounted for 34 percent, and the envenomation rate was 12 percent. Average lethality rate was 0.7 percent. Our work evaluated the efficacy of the adopted strategy based on indicators of follow-up, morbidity and lethality due to scorpion sting and envenomation.(AU)

[Cervical Pott's disease revealed by retropharyngeal abscesses]. / Abcès rétropharyngés révélant un mal de Pott cervical.

INTRODUCTION: Retropharyngeal abscesses are exceptional in adults. The etiologies are numerous, cervical spine tuberculosis is one of them. OBSERVATION: We report two cases of cervical Pott's disease revealed by a retropharyngeal abscess. The clinical presentation was non-specific, dominated by oropharyngeal obstruction. Radiological findings suggested the diagnosis, showing a retropharyngeal collection with vertebral osteolysis. The bacteriological and histological assessment confirmed the diagnosis. The evolution was favorable after treatment by antituberculosis drugs. DISCUSSION: Vertebral tuberculosis is rare. Cervical involvement is exceptional, and retropharyngeal abscesses can be the revealing feature of this condition. Symptoms are not specific. The diagnosis is based on radiological and bacteriological assessment. Treatment with antituberculosis drugs leads to a good outcome.

[Cranio-cervical junction malformations: a rare cause of bilateral vocal cord paralysis]. / Les malformations de la jonction craniocervicale: une cause rare de diplégie laryngée.

OBJECTIVES: To report a rare and reversible cause of bilateral vocal cord paralysis in an adult. MATERIAL AND METHODS: A 44 years old woman has consulted for a laryngeal stridor with hoarseness. This symptomatology was preceded by chronic headache and dizziness. The examination noted bilateral vocal cord paralysis in paramedian position, and a cerebellum syndrome. The patient underwent urgent tracheotomy. RESULTS: A magnetic resonance imaging was performed for the etiologic research, and revealed a Chiari I malformation with a compression of the bulb. Neurosurgical decompression permitted resolution of the symptoms, and selvage of the tracheotomy was possible 2 months after surgery. CONCLUSIONS: Bilateral vocal cord paralysis is rare on Chiari I malformation. It's secondary to a direct compression or an ischemia of the brain stem. The oto-rhino-laryngologists have to know this etiology to make the diagnosis early and permit a neurosurgical treatment.

[Cervicofacial cellulitis revealing cutaneous lymphomas]. / Dermohypodermites cervicofaciales révélatrices de lymphomes cutanés.

INTRODUCTION: The cervicofacial localization of cutaneous lymphomas is rare. These lymphomas usually present as a long-lasting and treatment-refractory papule or nodule. Lymphomas can also be revealed by cervicofacial cellulitis. CASES: We report 2 cases of cervicofacial cellulitis revealing a cutaneous lymphoma. The diagnosis was proved by multiple biopsies, performed because there was no clinical improvement in spite of an aggressive and adequate antibiotherapy. Our 2 patients were treated by radio and chemotherapy. DISCUSSION: Cutaneous lymphomas are lymphocytic proliferations stemming from cutaneous lymphoid tissue, without nodal, medullary, or visceral localization. Their clinical presentation is quite polymorphic, and cellulitis is one of the modes of revelation, especially forehead and neck localization. They have no portal of entry and are resistant to treatment. The diagnosis relies on histology, and biopsies must be performed if there is a suspicion of lymphoma. The treatment is radio and chemotherapy, and the evolution depends on the tumoral stage.

[Solitary bony plasmocytoma of the mandible]. / Plasmocytome solitaire osseux de la mandibule.

INTRODUCTION: Solitary plasmocytoma is a rare malignant tumor, belonging to the larger family of plasma cell proliferative diseases observed in bones. The mandible localization reported here is extremely rare. CASE REPORT: A 57-year-old man consulted for a tumefaction of the right mandible. Physical examination revealed a mandibular tumor with an osseous consistency covered by a healthy mucous. Radiologically, the tissue processed from the mandible, which presented a defect and an eroded cortical. Hemimandibulectomy was performed. Pathologic examination of the operative specimen demonstrated plasmocytoma. Complementary radiotherapy was performed. Outcome at 13 months was favorable, without recurrence of multiple myeloma. DISCUSSION: Plasma cell tumors are rare, about 10% of them are solitary plasmocytomas observed in intra- or extramedullar sites. Pathology is required for confirmation. An exhaustive assessment is needed to rule out multiple myeloma. Most solitary forms are observed in the spine. Appropriate treatment combines surgery and radiotherapy. Careful surveillance is required because of the frequent progression to multiple myeloma.

[Mesenchymal chondrosarcoma of the mandible]. / Chondrosarcome mésenchymateux de la mandibule.

INTRODUCTION: Mesenchymal chondrosarcoma is a rare form of chondrosarcoma and mandibular localization is rare. OBSERVATION: We report a case of mesenchymal chondrosarcoma of the mandible in a 23-year-old patient who consulted for a voluminous tumor of the right mandible. Radiological findings suggested a malignant tumor. A hemimandibulectomy and a pelvectomy were performed. The histological assessment showed zones of neoplastic cartilage and small ovoid cells, typical of mesenchymal chondrosarcoma. DISCUSSION: Mesenchymal chondrosarcoma is a rare malignant tumor of skeletal and extra skeletal origin. The most frequent localizations are the femur, the ribs, and facial bones. Histologically, these tumors have a typical biphasic pattern consisting of both small cells and islands of atypical cartilage. Because of its rich vascular component, this lesion has often been confused with hemangiopericytoma. Surgery is the usual treatment. The prognosis is very poor with a high risk of relapse and metastasis.

Hydatid cyst of the neck.

Hydatid disease located in the head and neck is uncommon, and hydatid cysts rarely present as a cervical mass. We report an unusual case of primary hydatid cyst arising in the soft tissues of the neck. The clinical presentation was non-specific. The diagnosis was suspected by the radiological findings, and confirmed by histopathology. Characteristics of this rare disease, its diagnostic difficulties, and treatment are discussed.

Scorpion stings in one province of Morocco: epidemiological, clinical and prognosis aspects

The present study aimed at verifying the impact of a Moroccan strategy against scorpion stings and, specifically, at identifying the epidemiological features of the patients envenomed or just stung by scorpions. The investigation included 4089 patients from a province of Morocco which were evaluated over three years (2001, 2002 and 2003). Most stings occurred during the hot period and mainly at night (between 6:00 p.m. and 12:00 p.m.). The average incidence was 2.8‰, the average age of the patients was 26.7±18.2 years, and the envenomation rate was 6.7%. Mortality rate was 0.05‰, and average lethality rate was 0.7%. Analysis of variance showed that young age, symptoms at admission, and long time elapsed between sting and admission were correlated with poor outcome. Comparison among data of the three years revealed an increasing number of reported cases and decreasing morbidity and mortality.(AU)

Ectopic lingual thyroid.

Ectopic lingual thyroid is an uncommon embryological aberration characterised by the presence of thyroid tissue located in a site other than the normal, pretracheal region. The tongue is the most frequent ectopic location of the thyroid gland; the clinical incidence of lingual thyroid varies between 1:3000 and 1:10,000. We present a new case of lingual thyroid in a 10-year-old child who presented dysphagia. The radiological findings and the biopsy confirmed the diagnosis. As the mass was well tolerated, surgery was not indicated. At this time, there are no signs of complications or malignant transformation.

[Giant form of infantile myofibromatosis located on the jaw]. / Forme géante de myofibromatose infantile localisée à la joue.

INTRODUCTION: Infantile myofibromatosis is a rare fibrovascular-like tumour, characterized by the development of single or multiple nodular lesions arising from cutaneous, subcutaneous, muscular bone or visceral structures, diagnosed before 2 years. OBSERVATION: We report a case of infantile myofibromatosis located on the jaw, which is unique because of its large size (12 cm), its location and its neonatal presentation. It was a voluminous proliferate tumour with an ulcerated centre, located on the left jaw. Surgical excision was complete and the diagnosis was maded on histological examination. Recovery was uncomplicated with no recurrence on follow up. DISCUSSION: Diagnosis of infantile myofibromatosis is difficult because of the clinical heterogeneity and the histopathological appearance. The histological diagnosis relies on identification of two separate components, fascicular myofibroblastic at the periphery and hemangiopericytome in the centre. The most freqaent treatment is conservative surgical excision, because recurrence rates are low and there is a possibility of spontaneous regression. Some authors recommend conservative management of very large or multiple lesions particularly if excision will result in significant functional or cosmetic morbidity.

[Scorpion poisonous stings in the population of Khouribga (Morocco)]. / Les piqûres et les envenimations scorpioniques au niveau de la population de Khouribga (Maroc).

Poisonous stings caused by scorpion constitute a public health problem in Morocco because of their frequency severity and socio-economic consequences that they generate. The province of Khouribga surveyed for this study is situated in a zone of high incidence and high lethality caused by scorpion stings in Morocco. In order to analyze the epidemiological profile and the poisoning risk factors, we are presenting the results of a past study conducted from April to December 2001. It consisted in making an exhaustive follow up from admission to release of all patients stung by scorpion. These patients consulted a sanitary structure (dispensary health centre or hospital) in the province of Khouribga, Morocco. Within a total of 1212 cases of stings, 63% of them occurred at night (between 06 pm and 06 am) particularly during July and August. Youngsters under fifteen represented 36% of these cases. 3.4% of the people who got stung presented typical poisoning and envenomation. The delay expected from sting to transfer to a medical structure was 1.85 +/- 0.11 hours for the patients who recovered against 2.67 +/- 0.11 for those who did not recover. To be noticed as well that 1.3% of the subjects who got stung die. Variance analysis indicates that the type of sanitary structures receiving patients, admission classes, and age of patients influence significantly the recovery rate of people who are stung.

[Establishment and analysis of a log to record scorpion stings in Morocco]. / Implantation et analyse d'un registre des piqûres de scorpion au Maroc.

Within the framework of a strategy against scorpion stings, an information system was established to track the indicators of morbidity and mortality caused by scorpion stings. The study of these indicators was carried out based upon a national record of scorpion stings. During the year 2001, 15,571 cases of scorpion stings were reported, that translates into an incidence rate of 1.2%. The patients were poisoned in 11.6% of the cases. Most of the patients (79.3%) were only put under clinical surveillance and did not receive any symptomatic treatment. The death rate was 6.3% and death only occurred in children of less than 15 years old (2.1% of the cases). This study demonstrated an improvement in morbidity and mortality indicators in comparison to the data collected before this campaign, all of which verifies the positive impact of the strategy which was put into place. However, it is necessary to continue monitoring until Morocco can overcome this problem.