Harlequin ichthyosis (HI) is a rare type of congenital ichthyosis associated with poor survival. We report, with photographic record, a male baby born with HI. To the best of our knowledge, this is the first reported case of HI in Saudi Arabia, where the child has survived beyond 7 years. The baby was born at 37 weeks of gestation from consanguineous parents with no inherited skin disorder in the family. The mother was 28 years old with three normal previous pregnancies and healthy babies. At birth, the baby's skin had thick scales separated by deep fissuring. He was managed in intensive care with supportive treatment and frequent application of lubricants, emollients and urea cream. The skin gradually became softened, and began to shed after 6 weeks. After 8 months of inpatient management, he was discharged. He is currently 7 years old and is still being treated for non-bullous congenital ichthyosiform erythroderma.
SUMMARYThe association between epidermolysis bullosa (EB) and pyloric atresia (PA) is rare but well documented. Herein, we report a case of EB associated with congenital PA. A female baby, weighing 1480 g, was born vaginally to a 31-year-old gravida 7 lady at 33 weeks of gestation. Polyhydramnios was detected on antenatal assessment. The parents were non-consanguineous Saudis with no family history of significant illness. At birth, welldemarcated areas of peeled skin were present over knees, left leg and periumbilical region. Systemic examination revealed no other abnormality. On second day, the patient developed recurrent vomiting and abdominal distension. An abdominal X-ray revealed a single gastric gas bubble suggesting pyloric obstruction. Following gastroduodenostomy, the baby developed severe sepsis with multiorgan dysfunction and expired on 25th day of life. Skin biopsy showed cleavage within lamina lucida. BACKGROUND
Background: Acute hepatitis caused by viral organisms which are typically implicated in the cases of encephalitis are rarely reported in literature. The presentation of enteroviral meningoencephalitis predominated with the clinical picture of hepatitis has rarely been recorded in populations other than neonates. Case Presentation: A male 2-year-old, presenting with a fever of 38 to 40 °C with chills and rigors, lethargy and drowsiness for 6 days. Along with the nausea, vomiting and watery diarrhea, he developed mouth ulcers (peri-oral vesicles) during the stay at the hospital. After extensive workup he was later diagnosed with meningoencephalitis and acute hepatitis due to Coxsackie virus A. After a stay of more than a month he was successfully treated and discharge. Conclusion: A more thorough evaluation should be carried out for atypical viral infections presenting with clinical presentation of hepatitis and meningoencephalitis.
Introduction:The surgical problem called acute cholecystitis is very common nowadays; however, it may be difficult to diagnose when a person has situs inversus, which is a congenital anomaly characterized by the viscera being situated on the opposite side of the body. Our case report discusses the history, findings from the physical examination, radiographic images, diagnosis, as well as how we dealt with cholecystitis in situs inversus with dextrocardia. Case presentation: An 86-year-old male presented to the emergency department with a complaint of pain in the upper-left hypochondrium region. He was later diagnosed to have acute cholecystitis (inflammation of the gallbladder) with cholelithiasis (presence of gallstones in the gallbladder) in situs inversus totalis. The patient underwent an elective open cholecystectomy within 24 hours. The patient recovered well and was discharged on postoperative day 4. Conclusion: Acute cholecystitis in situs inversus with dextrocardia is a rare congenital anomaly, and it requires great expertise in the field of surgery to operate on these patients because of the reverse anatomy of the organs.
BackgroundFigure 1: Clinical photograph showing polysyndactyly.Typical Grieg cephalopolysyndactyly syndrome (GCPS) is characterized by a preaxial polydactyly or a mixed pre-and/or postaxial polydactyly, true wide spaced eyes, and macrocephaly. Individuals with mild GCPS may have subtle craniofacial findings.The mild end of the GCPS spectrum is a continuum with preaxial polysyndactyly type IV and crossed polydactyly (preaxial polydactyly of the feet and postaxial polydactyly of the hands plus syndactyly of fingers 3-4 and toes 1-3). Individuals with severe GCPS may have seizures, hydrocephalus and intellectual disability. This condition israre and its prevalence is unknown. Grieg syndrome has a wide range of varieties depending on the Mutations in the GLI3 gene related to chromosome 7, and the presence of continuous intermittent tachypnea did not report as a primary fetcher. Certain cranial sutures may close prematurely (craniosynostosis).Such irregular closure of the sutures may cause the head to appear shaped abnormally (scaphocephaly, trigonocephaly, or plagiocephaly). Rarely, less than 10% of affected individuals may have more serious medical problems including seizures, delayed development, and intellectual disability, build-up of fluid inside the
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