Pericentric Inversion of Chromosome 9 in an Infant With Ambiguous Genitalia

Pericentric inversion of Chromosome 9 is one of the most common chromosomal abnormalities, which could be associated with various manifestations in some cases. Herein, a patient is presented with ambiguous genitalia that karyotyping revealed pericentric inversion of Chromosome 9 (p12,q13). Pericentric inversion of Chromosome 9 could be considered in the list of differential diagnosis of those with ambiguous genitalia, while chromosomal karyotype and culture could be recommended in children with ambiguous genitalia

Multifactorial Neonatal Thrombosis in Inferior Vena Cava Dislodged to the Right Atrium: A Case Report

Background: Neonatal thrombotic diseases can cause mortality or serious morbidity and disability.Case report: In this report, we present a case of neonatal inferior vena cava thromboembolism with several underlyingfactors. Hereditary thrombophilia and genetic mutation in plasminogen activator inhibitor-1 and MTHFR A1298C genesin conjunction with cleft palate resulted in poor lactation and hypernatremic dehydration. A peripherally insertedcentral catheter in the inferior vena cava was an additional underlying factor. Thrombosis mass was dislodged to theright atrium while asymptomatic and accidentally detected during routine echocardiography.Conclusion: Surgical thrombectomy was done successfully, and the mass was removed from the right atrium

Caustic Agent Ingestion by a 1.5-Year-Old Boy

We present a case of caustic ingestion by a 1.5-year-old boy. The caustic agent was drain opener which is a strong alkaline substance. Children in Iran and many other countries are still exposed to not “child proof” (child resistant packaging) toxic substance containers. Ingestion of caustic agents may lead to necrosis, perforation, and strictures. Substances that are ingested more frequently are liquid alkali material which causes severe, deep liquefaction necrosis. Common signs and symptoms of caustic agents are vomiting, drooling, refusal to drink, oral burns, stridor, hematemesis, dyspnea, dysphagia and abdominal pain. Even if no oropharyngeal lesion is seen, a significant esophageal injury which can lead to perforation and stricture cannot be ruled out. If abdominal pain or rigidity, substernal, chest or back pain exists, visceral perforation should be considered. The first thing to be checked is airway assessment. A lot of patients should be admitted to intensive care unit, and endoscopic evaluation, surgical intervention, long-term hospitalization, and worsening quality of life or among the complications. Preventive measures especially at the country level and approving proper legislation for obligating the related industries to produce child proof containers for house hold toxic products are the urgent measures to be followed by all of us

Red Flags of Organic Recurrent Abdominal Pain in Children: Study on 100 Subjects

Objective: A variety of sign, symptoms and laboratory findings are more common in children with organic abdominal pains. This study was performed to evaluate the prevalence of organic and functional abdominal pains and relation of red flags to organic pains in 100 children with recurrent abdominal pain (RAP). Methods: One hundred consecutive patients with RAP were enrolled in the study. A complete interview and physical examination was made for each patient, accompanied by a series of laboratory, clinical and paraclinical examinations. The data were recorded and analyzed. Logistic regression analysis was used to model and formulize correlations between sign, symptoms, and laboratory findings with organic and functional abdominal pain. Findings: Among 100 patients (52% male, 48% female, Age: 9.29±3.17) diagnostic works up revealed organic pain for 57 patients. The most common symptoms of the patients included constipation, diarrhea, chest pain, cough, headache, vomiting, hematuria, and dysuria. Fecal incontinence, delayed puberty, organomegaly, jaundice, and family history of inflammatory bowel disease were reported in none of the patients with RAP. Fever, pain not located in periumbilical area, nocturnal pain, elevated erythrocyte sedimentation rate, weight loss, growth disorder, and abdominal tenderness were among the red flags which revealed diagnosis of organic pain in this study. Conclusion: A series of red flags could increase likelihood of finding organic pain in children with RAP

A 13.5- Year Old Boy with Abdominal Pain and Weight Loss and Chronic Intussusception

We present a 13.5 year old boy with chronic intussusception that was misdiagnosed as Crohn disease and received treatment for the wrong diagnosis. Because his condition didn’t improve, more work-ups were performed and the radiologic work-ups revealed the diagnosis of a missed intussusception with fistula.We suggest that prolonged intussusception should be considered in the list of differential diagnosis for the refractory abdominal pain and distention, bloody diarrhea, and radiologist consultancy should be requested, as Crohn disease, infectious gastroenteritis, abdominal malignancies and prolonged intussusception should be carefully investigated and considered in such situations

A Case Report of Congenital Myasthenia Gravis Presenting With Respiratory Distress

Congenital Myasthenic Syndromes (CMS) are rare inherited disorders characterized by dysfunction of neuromuscular transmission at the neuromuscular junction. Most patients with congenital myasthenic syndromes present in the infancy. Major symptoms of affected individuals include weakness and fatigue during the first years of life. Patients may show hypotonia, facial weakness, swallowing difficulties, respiratory dysfunction, ptosis and ophthalmoparesis. Here we report a 6 month old boy congenital myasthenia gravis due to homozygous mutation in COLQ gene. The patient presented with several episodes of apnea and didn’t have ptosis until 6 months of age, and even at this time it started as just left eye ptosis and after a few days became bilateral. He had been misdiagnosed with several other causes of episodic apnea. Later by using electrophysiology he was diagnosed as congenital myasthenia gravis and mutation analysis of the patient revealed the presence of mutation of COLQ gene and was treated successfully