In spite of lacking many advanced chromosomal evaluations in our institute we recommended for further investigation into isolated and particularly familial cases may lead to the identification of genetic abnormalities detectable with FISH assay, locus-specific DNA probes, or other new techniques. There remains an ongoing need for careful clinical review and blood banking of cases of CDH to allow better insight into the genetic causes of severe fetal anomalies such as CDH.
IntroductionNeuroglial heterotopia, heterotopic brain tissue, or differentiated neural tissue outside the cranial vault is uncommon, and these anomalies most commonly occur in the nasal cavity.Case presentationWe report a case of rare pure cystic heterotopic brain tissue in a two-month-old Caucasian baby girl that presented as a large cystic neck mass and was confused with a cystic hygroma. Her mother reported a progressive increase in the size of this swelling and mild respiratory difficulty when the girl was sleeping. A computed tomography scan of the brain and neck showed a large heterogeneous mass extending from the base of the skull to the left submandibular region; a cystic component was also noted. Our patient under went total excision of the cystic mass and prevention of airway obstruction by a left submandibular approach. The final gross pathology diagnosis was heterotopic brain tissue.ConclusionsPure cystic neck heterotopic brain tissue lesions are very uncommon, and a preoperative diagnosis of this lesion is difficult. Brain heterotopia is a rare, benign condition that should be considered in the differential diagnosis of the neonatal head and neck mass.
Introduction: Genital and Gynecologic tumors in children are rare and represent less than 5% of all pediatric neoplasms. Vaginal parts of these tumors can have a spectrum and variable clinical presentation. Rhabdomyosarcoma (RMS) is considered the most common soft-tissue sarcoma found in children. We present a case of Sarcoma botryoides to illustrate the difficulties encountered by pediatric surgeons in the management of this malignant and aggressive tumor. Case Report: A 3 years old girl presented to our pediatric surgery clinic with 2-months history of a protruding mass from her vaginal orifice. The patient was arranged for surgery, where an en-bloc dissection of the total mass was done. A classic histologic findings in sarcoma botryoides were confirmed. Conclusion: All parents and concerned health workers should take care on finding a protruding mass in the genitourinary tract of their child and they should bring the child to medical attention, this can enhance the early diagnosis and better prognosis. 19. Raney RB., et al. "Rhabdomyosarcoma and undifferentiated sarcoma in the first two decades of life: a selective review of inter group rhabdomyosarcoma study group experience and rationale for Intergroup Rhabdomyosarcoma Study V".
Background: Ectopia Cordis (EC) is a rare congenital condition where the heart is partially or completely lies outside the thoracic cavity (extrathoracic), uncovered by pericardium and skin. Many works of literature reported EC is a rare congenital abnormality with an incidence of about 5-8 per 1 million live births and includes about 0.1% of congenital heart diseases. Methods: This was a male baby, weighing 2.900 kg, received with cyanosis with a defect in the anterior chest wall and heart protruding out through it. On initial physical examination, split sternum with complete thoracic EC (beating outside the thoracic cavity with a complete absence of the pericardium with the apex pointing upwards) were reported. Results: The baby’s poor general condition did not allow further radiologic studies and echocardiography could not be performed. By the time, an arrangement had been planned for him to undergo cardiothoracic referral; unfortunately, he ran a downhill course and succumbed within 36 hours of life. Conclusion: The important for submitting such findings will assist our team: pediatric surgeons, obstetricians, pediatricians and, neonatal intensivists to develop future management strategies when they are enrolled or confronted with such cases, by improving the outcome through a precise workup design to provide the optimal evaluation, diagnosis, and management roadmaps of potential cases of EC.
Langerhans cell histiocytosis (LCH) as a term encompasses eosinophilic granuloma and two clinical syndromes: Letterer–Siwe disease and Hand–Schüller–Christian. All these syndromes seem to represent similar processes in which the proliferating cells have the structural and functional features of Langerhans cells. In reviewing the literature found that this disease does indeed occur in some families more often than would be expected. We present two boys, siblings with LCH in a single family with two different entities (There were no other siblings) and this paper is presented to emphasize the very rare familial occurrence of EG and the other one with Letterer–Siwe disease in our single family. The first patient, first child for consanguineous parents, 15 month boy, was born following an uncomplicated cesarean section, fullterm pregnancy. He developed well on bottle feed. At 13 months of age, he was noted to have a low hemoglobin concentration, mild fever, painful tender swellings and redness over the left lower chest wall a small subcutaneous mass was found. After clinical, radiological and histopathologic review, it was diagnosed as eosinophilic granuloma. Their second child, 6 month boy after a second cesarean section. At 5 month of age he developed a scaly, erythematous rash on his back spread to his shoulders, limbs and upper chest wall. The diagnostic conclusion from the clinical, skin biopsy, histopathology and bone marrow study was histiocytosis X and the diagnosis of Letterer–Siwe disease was established. Many studies listed a number of reported families with a disease which, though not considered as Letterer–Siwe disease by the authors, must certainly belong to the histiocytosis group. Many families reported have had more than one child affected with the generalized form of histiocytosis X. No case did a known relative other than a sibling have a similar disease, one family with known consanguinity, the parents were cousins. No such previous report presented these two rare different entities in two siblings as in our family.
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