Polymicrogyria, aventriculy, polydactyly, encephalocele, callosal agenesis (PAPEC): a new syndrome?

INTRODUCTION: Aventriculy is a very rare observation and is generally associated with holoprosencephaly. We report here a case of polymalformation affecting the brain, hands, and feet observed in a highly consanguineous family in Niger. CASE REPORT: A boy was born from a highly consanguineous family presenting multiple malformations (aventriculy, extreme microcephaly, polydactyly, polymicrogyria, callosal agenesis, and parietal encephalocele). To the best of our knowledge, such association has never been reported so far. DISCUSSION: We propose to name this association PAPEC (for polymicrogyria, aventriculy, polydactyly, encephalocele, and callosal agenesis). The occurrence of this disease in a highly consanguineous family suggests a genetic origin. Furthermore, we propose hypotheses that could explain pathophysiology of this defect.

Notomelia and related neural tube defects in a baby born in Niger: case report and literature review.

INTRODUCTION: Notomelia associated with neural tube defects are rare diseases. CASE REPORT: A baby was born in Niger with multiple congenital embryonic malformations on the posterior midline. The most rostral malformation was an accessory limb (polymelia) at the level of the lumbar vertebrae composed of two long bones, a foot and three toes. Accessory male genitalia were present at the base of this malformed accessory limb which had no apparent motor or sensory innervation. The second malformation was a sacral vestigial appendage with an adjacent dermal sinus opening onto the posterior midline and extending internally to the dura through a defect of the vertebral arches. From the published literature and this particular case, we conclude that notomelia is a rare clinical sequela of a neural tube defect (NTD) and is correctly classified as a dysraphic appendage. CONCLUSION: The recent occurrence of three similar cases in the same ethnic group from Niger, three from consanguineous parents, suggests that genetic factors are likely to contribute significantly to the genesis of this syndrome, consistent with a recent report that mutation of the bovine NHLRC2 gene resulting in a V311A substitution at a highly conserved locus in the NHLRC2 protein is, when homozygous, causally associated with several forms of polymelia including notomelia, with heteropagus conjoined twinning and with other NTD-related embryonic malformations. Detailed genome-wide studies of children with dysraphic appendages are indicated.

A case of cephalomelia discovered in a baby born in Niger.

INTRODUCTION: Subcutaneous tumors with extra limbs are very rare, and they are considered either as fetus in fetu or fetiform teratoma. CASE REPORT: We report here the case of a 6-day-old presenting a mass extending at the level of the occipital bone. This mass is developed in the extracranial region and contains two forelimbs including hands with digits. CT shows that the squamous part of the occipital bone is involved with several defects through which a part of the cerebellum herniates. The boy was operated on and the tumor was removed. The herniated region of the cerebellum has also been removed. After surgery, the boy develops normally. CONCLUSION: This type of tumor is extremely rare and is only the second case that has been reported at this exact location. This could be the so-called céphalomélie described by Isidore Geoffroy Saint-Hilaire in a duck in his famous Treatise of Teratology (1836). The cause of this malformation is still a matter for debate.

INJURIES OF BOKO HARAM INSURGENCY IN SOUTH-EAST NIGER REPUBLIC.

BACKGROUND: Currently, wounds of wars, terrorism and criminality are increasing and constitute major public health problem worldwide. AIM: To present the epidemiological, clinical and therapeutic characteristics of the wounds observed during the Boko Haram (BH) insurgency in the South-east of the Republic of Niger. METHODOLOGY: This was a cross-sectional study from December 2014 to December 2016 at Diffa Regional Hospital, Diffa, Niger of individuals whose injuries were as a result of Boko Haram insurgency. RESULTS: In the period of this study, 573 injuries from Boko Haram insurgency were managed at the Regional Hospital at Diffa. The majority, 513(89.5%), were males while females constituted 60(10.5%) with a male/female ratio of 8.55. The mean age was 30,94(SD24,91) years (range 1 to 97 years). Civilian victims accounted for 379 (66.1%) while Nigerien soldiers accounted for 160(27.9%) and 34 (5.9%) were Boko Haram fighters. Firearms and explosives accounted for injuries in 489 (85.3%) and 7(1.2%) of patients respectively; 42 (7.3%) suffered injuries from a variety of traditional weapons. Injuries to limbs accounted for 361(63%) of cases and polytrauma in 65(11.34%). The main surgical management included wound debridement in 409 (71.4%), external bone fixation in 38 (6.6%), laparotomy in 30 (5.2%), thoracic drainage in 27 (4.7%), and major limb amputations in 13 (2.3%) cases.Postoperative follow-up was uneventful in 460 (80.28%) of cases; there were 29 deaths, giving a mortality rate of 5.1%. Predictors of death after injuries of Boko Haram terrorism in this study included: being civilian patients (OR = 3.38 [1.15-9.85], p=0.018), injuries to head, neck, trunk or spine (OR 3.45[1.58-7.58], p= 0.001) or the presence of polytrauma on admission (OR = 17.30 [7.72-38.80], p<0.0001). CONCLUSION: This study has shown that injuries sustained in Boko Haram insurgency in Niger were mainly firearm injuries and injuries from the use of traditional weapons, affecting mostly young civilian males. The part of the body most commonly involved were the extremities, with mainly soft tissue injuries. Wound debridement was the commonest surgical procedure performed and the mortality rate was 5.1%. Predictors of mortality were being civilian patients, injuries of head, neck, trunk or spine and polytrauma. The ICRC has played a major role in strengthening our hospital for the task of caring for the victims, in terms of provision of material resources and in the further training of our personnel.

[Intraspinal epidermoid cyst]. / Kyste épidermoïde intrarachidien.

Epidermoid cysts are rare intradural extramedullary tumors. There are two types of lesions: congenital spinal cysts frequently associated with other bone or skin malformations (spina bifida aperta, dermal sinus ...) and iatrogenic spinal cysts resulting from lumbar puncture. In both situations, clinical and the radiologic findings are similar. We describe an epidermoid cyst in a 52-year-old female affected with a lumbar pain and recent urinary disorders. Symptoms were slow to appear and dependent on the location of the cyst. Epidermoid cyst contained keratin, cholesterol crystals and desquamed epithelial cells. On CT, epidermoid cyst was a hypodense lesion on MR. On T1 weighted images the tumor was hypointense. The signal appeared heterogeneous. There was no enhancement after Gadolinium DTPA injection. Differential diagnosis included: ependymoma, hemangioblastoma, neurinoma, meningioma and metastasis, but all these lesions are enhanced by contrast injection.

[Intrasellar arachnoid cysts: computed tomography and MRI. Apropos of 2 cases]. / Kystes arachnoïdiens intrasellaires: scanographie et IRM. A propos de deux observations.

We describe the computed tomographic and magnetic resonance imaging findings in two cases of intrasellar arachnoid cysts. The diagnosis of intrasellar arachnoid cyst with suprasellar extension should be evoked in case of a cyst-like formation whose density and signal appear to be identical to those of the cerebrospinal fluid even if contrast uptake is evidenced in the cyst wall. Contrast uptake can be related to compression of the pituitary stalk and normal pituitary displacement. Suspected intrasellar arachnoid cyst modifies the surgical approach which must be made via a subfrontal route. We discuss the differential diagnosis with other intrasellar cystic formations such as necrosed tumor, abscesses, Rathke pouch cysts, cystic craniopharyngiomas, epidermoid cysts and parasite cysts.

[Traumatic brain injury and anterior pituitary dysfunction. Regarding 33 cases: Evolution profile over a six-month period]. / Traumatisme crânien et dysfonctionnements antéhypophysaires. À propos de 33 cas : profil évolutif sur 6 mois.

OBJECTIVES: To measure anterior pituitary dysfunction in traumatic brain injury (TBI) and assess the correlations between this disorder, clinical signs and brain lesions. METHOD: This was a prospective, longitudinal and analytic study conducted in the department of neurosurgery at the National Hospital of Niamey and the institute of radioisotopes of Niamey University between November 2009 and November 2010. All patients admitted for head trauma were included in the study. They were followed-up for 6 months and underwent clinical, hormonal and CT scan analysis. The hormonal studies targeted gonadotroph hormone, growth hormone (GH), corticotroph, lactotroph, and thyreotroph axes. RESULTS: Thirty-three patients were included in the study. The sex ratio was 15.4:1. The mean age was 28.21 years. Glasgow coma scale score was between 7 and 12 in 52% of cases, with brain contusions in 54.5% of cases. In the acute phase, hypogonadism was reported in 64% of cases, and growth hormone deficiency in 58% of cases. Hormonal follow-up at three months showed GH deficiency in 48% of cases with an elevated luteinizing hormone (LH) in 42% of cases. At sixth months, a rise in LH was observed in 55% with GH deficiency in 52% of cases. Surgical procedures were performed in 21% of cases. At 6 months a post-concussion syndrome was observed in 48.48% of cases. CONCLUSION: These pituitary dysfunctions are common and should be investigated into the management of TBI.