Abstract | BACKGROUND: METHODS: We report a full-term infant admitted to the neonatal intensive care unit (NICU) with abdominal distension and inability to sustain full enteral feeds. A retrospective chart review and review of the literature was performed. RESULTS: An infant with abnormal, mucoid-like stringy stools was incidentally found to have severe metabolic acidosis on routine lab monitoring. Acidosis corrected with total parenteral nutrition (TPN), but the infant experienced recurrent episodes of acidosis with enteral feeds. He was also noted to have abnormal ocular movements, fluctuating tonicity, and staring spells. He underwent an extensive workup and the diagnosis of microvillus inclusion disease was made by findings on electron microscopy. The diagnosis was confirmed with whole exome sequencing, showing a rare homozygous mutation in the syntaxin 3 (STX3) gene. This is the fifth reported patient with microvillus inclusion disease with a mutation in this gene, and the first with abnormal neurologic findings. CONCLUSION: It is important to consider MVID in the differential diagnosis of a neonate or infant with abnormal stools, metabolic acidosis, with and without neurologic symptoms for prompt referral and treatment.
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Authors | Jacqueline Julia, Valerie Shui, Naveen Mittal, Josefine Heim-Hall, Cynthia L Blanco |
Journal | Journal of neonatal-perinatal medicine
(J Neonatal Perinatal Med)
Vol. 12
Issue 3
Pg. 313-319
( 2019)
ISSN: 1878-4429 [Electronic] Netherlands |
PMID | 30909251
(Publication Type: Case Reports, Journal Article)
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Chemical References |
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Topics |
- Acidosis
(diagnosis, genetics)
- Colitis
(pathology)
- Consanguinity
- Diagnosis, Differential
- Feces
(chemistry)
- Humans
- Infant, Newborn
- Malabsorption Syndromes
(diagnosis, genetics)
- Male
- Microvilli
(genetics, pathology)
- Mucolipidoses
(diagnosis, genetics)
- Mutation
(genetics)
- Nervous System Diseases
(diagnosis, genetics)
- Osmolar Concentration
- Qa-SNARE Proteins
(genetics)
- Sigmoid Diseases
(diagnosis, genetics)
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