Congenital diarrhea in a newborn infant: A case report.

BACKGROUND: Microvillus inclusion disease (MVID) is a rare autosomal recessive cause of severe congenital diarrhea with significant morbidity and mortality. Definitive treatment involves bowel transplant. The diagnosis of this condition can be challenging and a few genetic panels are available for the identification of the most common mutations. We present the case of an infant with MVID due to a mutation not reported in the literature before. CASE SUMMARY: We report the case of an infant transferred to our institution with severe diarrhea of unknown etiology, failure to thrive, and significant metabolic derangements. An extensive work-up including stool studies for common gastrointestinal pathogens, abdominal ultrasound, esophagogastroduodenoscopy with duodenal biopsy and flexible sigmoidoscopy failed to reveal a diagnosis. Multiple dietary and formula regimens were introduced but all resulted in voluminous diarrhea. She remained on total parenteral nutrition (TPN) for the duration of her hospital stay. Genetic testing was done and she was subsequently found to have a novel mutation in the MYO5B gene [homozygous mutation for MYO5B c.1462del, p. (Ile488Leufs*93)] giving us the diagnosis of MVID. She remains on TPN while awaiting bowel transplant at the time of the compilation of this case report. CONCLUSION: We report a novel mutation involved in MVID and highlight the importance of considering this disease when faced with a newborn presenting with life threatening diarrhea. At the time of this publication, 232 allelic variations of this gene (MIM#606540) exist in National Center for Biotechnology Information's database. Our patient's mutation has not been reported in literature as a cause of MVID.

Extended-Spectrum Beta-Lactamase-Producing Escherichia coli Meningitis and Cerebral Abscess in a Neonate: Therapeutic Challenge.

We report a case of a 12-day-old term neonate with extended-spectrum beta-lactamase (ESBL) producing Escherichia coli (E. coli) meningitis and cerebral abscess. The patient received a 7-day course of antibiotics just few days prior to the infection. The incidence of infections from ESBL-producing E. coli is increasingly emerging. Antimicrobial agents must be vigilantly utilized to prevent the new highly resistant bacteria.

11p15.4 Microdeletion Associates with Hemihypertrophy.

We report a preterm female infant with intrauterine growth retardation, dysmorphic facies, missing rib, small hands and feet, and hemihypertrophy. The results of whole genome SNP microarray analysis showed approximately 77 Kb interstitial deletion of the short arm of chromosome 11 (11p15.4). We report novel clinical findings of this rare genetic condition.

Clinically significant anatomical variation of the retropharyngeal internal carotid arteries.

Although interpatient variations in the course and anatomy of extracranial internal carotid arteries (EICAs) have been described previously, intrapatient variability is rarely cited in the literature. Distance between EICAs and the pharyngeal wall is an important determinant of vascular injury risk. A retropharyngeal EICA has crucial implications in patients undergoing pharyngeal procedures, and important in otorhinolaryngology and emergency medicine. Surgical exploration without identification of anatomical landmarks, or emergent intubation in the emergency room poses high risk for EICA injury. Other critical clinical considerations include intra-arterial involvement of tonsillitis, peritonsillar abscesses, or parapharyngeal neoplasms due to close proximity to the EICA. We present 2 cases with short-term change in retropharyngeal course of EICA to highlight this further. Although no clear etiology for these changes has been identified, we hypothesize that embryology, weight alterations, atherosclerotic disease, and postradiation changes are contributory. Thus, one radiologic study does not exclude variation in vascular anatomy.