Gastroduodenal Emphysema with Portal Venous Air due to Congenital Duodenal Web in a Child: A Case Report and Review of LiteratureRead the full article
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Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency
Familial hepatic veno-occlusive disease with immunodeficiency (VODI, OMIM: 235550) is a rare form of combined immune deficiency (CID) that presents in the first few months of life with failure to thrive, recurrent infections, opportunistic infections along with liver impairment. Herein, we are describing a Pakistani patient with a homozygous novel variant in the SP110 gene, presenting with classical phenotypic manifestations of VODI. He presented at the age of 3 months with opportunistic infections and later developed liver failure. Conclusion. Hepatic veno-occlusive disease with immunodeficiency is a rare cause of immunodeficiency, and this is the first case report from the Middle East in a patient of Pakistani origin. It is important to have a high suspicion for this disease, in patients presenting early life with a picture of CID and deranged liver function, as the earlier the diagnosis and treatment, the better the prognosis.
Air Leak Syndrome: Pneumoperitoneum in a Ventilated Neonate
Air leak syndrome has several manifestations and is common in neonates with meconium aspiration syndrome (MAS) due to air trapping. While pneumoperitoneum is classically a result of intestinal perforation, intra-abdominal free air may be a less common presentation of air leak syndrome. In the ventilated neonate, there is insufficient clinical evidence outlining management of pneumoperitoneum in this situation. We report a case of a term neonate with MAS and air leak syndrome who developed benign pneumoperitoneum (BPPT).
Unusual Course of Scimitar Syndrome Preceded by Lung Hypoplasia
In patients with Scimitar syndrome, right pulmonary artery hypoplasia is considered to lead to right lung hypoplasia because of decrease in blood flow. However, there are no reports wherein the change was actually detected. Thus, the exact developmental mechanism of right pulmonary artery hypoplasia and right lung hypoplasia in patients with Scimitar syndrome is unclear. We experienced a case of Scimitar syndrome preceding right lung hypoplasia, and right pulmonary artery hypoplasia gradually revealed with time. We hypothesized that, in our patient, the lung hypoplasia led to pulmonary artery hypoplasia due to decrease in blood flow. If there are no differences in the diameter of the left and right pulmonary artery in patients with Scimitar syndrome at birth, we propose the necessity of careful observation due to the possibility that pulmonary artery hypoplasia may develop in the future.
Cardiac Murmur in a Boy with Normal Paternal Prenatal Carrier Screening for Pompe Disease
Introduction. Pompe disease is an autosomal recessive lysosomal storage disorder with marked morbidity and mortality, if untreated. With the advent of enzyme replacement therapy, it is essential to identify the infantile-type as early as possible to mitigate the effects of the enzyme deficiency. Identification is possible prenatally with testing of both parents. More recently, many states have instituted newborn screening for this condition. Case. We report a patient with infantile-onset Pompe disease with a normal paternal carrier genetic test, born prior to newborn screening for Pompe disease in the state of Michigan. The infant’s father was retested once the infant was diagnosed with Pompe disease postnatally and noted to have a mutation conducive to Pompe disease. Conclusion. Providers should have a strong clinical suspicion for disorders even if prenatal parental carrier screening is normal. A normal parental prenatal test does not exclude the possibility that the fetus may be diagnosed with a disorder postnatally, and pediatricians may be faced with limitations in accuracy of parents’ recollection of parental testing results.
Pontocerebellar Hypoplasia Maps to Chromosome 7q11.23: An Autopsy Case Report of a Novel Genetic Variant
Pontocerebellar hypoplasias are a group of autosomal recessive neurodevelopmetal disorders with varied phenotypic presentations and extensive genetic mutational landscape that are currently classified into ten subtypes. This classification is based predominantly on the genetic iterations as the phenotypic presentations are often broad and overlapping. Pontocerebellar hypoplasia type-3 (PCH3) is an autosomal recessive disorder characterized by a small cerebellar vermis, hyperreflexia, and seizures, described in Middle Eastern families in association with a homozygous truncating mutation of the PCLO gene in locus 7q11-21. This is a case of PCH, with previously unreported novel genetic alterations. The patient is a 1-week-old girl, born at term to a 26-year-old G4P0A3 woman in a nonconsanguinous relation. At birth, the baby was depressed and hypertonic with abnormal tonic-clonic movements of extremities. MRI revealed cerebellar and brainstem hypoplasia. Postmortem examination revealed a palmar simian crease. The cerebellum measured 2.5 cm from side to side and 1 cm from rostral to caudal. The vermis was rudimentary. Sectioning revealed a flattened linear fourth ventricle, scant abortive cerebellar foliae, and a markedly small cerebellum when compared with the cerebrum and with age-matched size. H&E-stained sections of cerebellum revealed scant rudimentary foliae. A rudimentary unilateral embolliform nucleus was identified. The remaining cerebellar nuclei were absent. Chromosomal microarray showed an interstitial duplication of 841 kB on chromosome 7q11.23. Locus 7q11.23 contains FGL2 and GSAP genes and is 5 MB upstream of the 7q11-21 region, suggesting a possible linkage. This novel genomic finding possibly represents a new familial variant of PCH closely associated with PCH-3 and further strengthens its association with the 7q11 locus.
Extensive Epidermal Skin Loss Secondary to HSV Type One: Neonatal Management Challenges
We describe a rare case of a preterm neonate presenting at birth with extensive epidermal skin loss of over 90% due to disseminated herpes simplex virus type one infection. Differential diagnosis included aplasia cutis and epidermolysis bullosa. Serum PCR and mouth swabs confirmed HSV type one, and the patient required three weeks of treatment with intravenous aciclovir, followed by oral aciclovir. We describe the management challenges and give practical solutions applicable to the care of a neonate presenting with widespread skin loss due to any aetiology.