Hydrometrocolpos With Polydactyly in Consanguineous Parents: A Case Report and Review of Literature.

Neonatal hydrometrocolpos (HMC) is a cystic dilatation of a neonate's vagina and uterus occurring secondary to congenital vaginal obstruction, with or without maternal estrogenic stimulation of uterine and cervical glands causing increased secretions during the prenatal and postnatal period. Diagnosis is made using ultrasonography and further confirmed by MRI. HMC in a neonate can rarely present with congenital anomalies such as polydactyly, which may indicate a variety of underlying genetic syndromes. There is a deficit in the literature as to whether the development of HMC in a neonate of consanguineous parents is an isolated finding or solely related to an underlying syndrome. We hope to help bridge this gap by reporting a case of a 12-day-old neonate presenting with hydrometrocolpos and polydactyly, born to consanguineous parents.

Ultrasound Findings in a Neonate During Anaphylactic Reaction to Total Parenteral Nutrition: A Case Report.

Total parenteral nutrition (TPN) is the intravenous delivery of nutrients and is commonly used in the Neonatal Intensive Care Unit (NICU). Hypersensitivity reactions to parenteral nutrition have seldom been described in the literature. Anaphylaxis is a potentially life-threatening emergency condition that can progress rapidly and involves multiple organ systems. We report a case of anaphylaxis due to TPN in a neonate with observed ultrasound findings during the acute episode never reported in the literature before.

A Case of Rhizomelic Chondrodysplasia Punctata in a Neonate.

Rhizomelic chondrodysplasia punctata (RCDP) is a rare, multisystem, autosomal recessive, peroxisomal disorder of a family of congenital disorders known as chondrodysplasia calcificans punctate (CCP). RCDP is characterized by disproportionately short extremities (rhizomelia), congenital cataracts, and joint contractures. Dysmorphic facial features include a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia. Severe mental retardation with spasticity and seizures may also be present. X-ray of the limbs showed punctate calcifications in cartilage (chondrodysplasia punctata). Genetic testing reveals the severity of phenotype. Treatment is limited to supportive symptomatic relief and prevention of complications. To the best of our knowledge, after searching through PubMed, our case is the first reported case of RCDP in the Middle East.

Neonatal Pericardial Effusion and Tamponade After Umbilical Venous Catheter Insertion and the Use of Saline Contrast Echo as a Diagnostic Tool.

BACKGROUND Umbilical venous catheter (UVC) insertion is a standard of care in neonatal units. Pericardial effusion, one of the rare but fatal complications of UVC insertion, requires rapid diagnosis and management, and saline contrast echocardiography may enable effective diagnosis. Here, we have reported on the case of pericardial effusion after UVC insertion, highlighted the use of saline contrast echocardiography as a diagnostic tool, and reviewed the available literature on this infrequent life-threatening complication. CASE REPORT A 31-week-old preterm male infant developed a life-threatening cardiac tamponade 1 day after UVC insertion. Pericardiocentesis was performed, and saline contrast echocardiography confirmed the diagnosis. CONCLUSIONS We concluded that pericardial effusion and tamponade should be considered in neonates with a central line who develop sudden and unexplained deterioration. Saline contrast echocardiography can confirm the optimal position of central lines and diagnose pericardial effusion related to UVC insertion.

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases characterized by progressive age-dependent loss of corticospinal motor tract function. Although the genetic basis is partly understood, only a fraction of cases can receive a genetic diagnosis, and a global view of HSP is lacking. By using whole-exome sequencing in combination with network analysis, we identified 18 previously unknown putative HSP genes and validated nearly all of these genes functionally or genetically. The pathways highlighted by these mutations link HSP to cellular transport, nucleotide metabolism, and synapse and axon development. Network analysis revealed a host of further candidate genes, of which three were mutated in our cohort. Our analysis links HSP to other neurodegenerative disorders and can facilitate gene discovery and mechanistic understanding of disease.

Sickle cell hemoglobin C disease in Saudi Arabia.

Sickle cell hemoglobin C (HbSC) is a disease confined to people of West African ancestry and it has not been reported in the Kingdom of Saudi Arabia (KSA). We are reporting 2 patients with HbSC disease from the western province of KSA (Madinah); one patient presented with severe form of the disease which include transient hypertension.