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Pediatric intestinal pseudo-obstruction found in 3-year-old male with Rett-related mutation of methyl-CpG binding
Angela Tran1, Namrata Patel-Sanchez2
1Pediatrics, UCSF Benioff Children's Hospital Oakland Oakland California USA.
Insights
Pediatric intestinal pseudo-obstruction (PIPO) can stem from genetic causes like methyl-CpG binding protein 2 (MECP2) variants, seen in atypical Rett syndrome. Early genetic testing is crucial for diagnosing and managing PIPO, even with mild neurological symptoms.
Area of Science:
- Pediatric Gastroenterology
- Clinical Genetics
- Neurodevelopmental Disorders
Background:
- Pediatric intestinal pseudo-obstruction (PIPO) presents diagnostic challenges, often requiring extensive evaluation to rule out common causes.
- Atypical presentations of genetic disorders can mimic PIPO, complicating diagnosis.
Purpose of the Study:
- To highlight the diagnostic complexity of PIPO in pediatric patients.
- To emphasize the importance of considering genetic etiologies, including MECP2-related disorders, in PIPO cases.
- To illustrate the successful management of PIPO secondary to an atypical Rett syndrome presentation.
Main Methods:
- Case report of a 3-year-old male with chronic PIPO symptoms.
- Comprehensive diagnostic workup excluding mechanical, malabsorptive, metabolic, inflammatory, and infectious etiologies.
- Whole exome sequencing to identify genetic variants.
- Clinical management utilizing promotility agents and nutritional support via gastrostomy tube.
Main Results:
- Whole exome sequencing identified a pathogenic MECP2 variant, indicating atypical Rett syndrome.
- The patient experienced symptom resolution, including abdominal distention and constipation, with targeted management.
- Neurological examination was largely normal aside from a speech delay.
Conclusions:
- PIPO can be an early manifestation of MECP2-related disorders, such as atypical Rett syndrome.
- Genetic testing is essential for identifying underlying causes of PIPO, particularly in complex or atypical cases.
- Multidisciplinary care and early genetic diagnosis are critical for effective management of PIPO in pediatric patients.
Abstract:
A 3-year-old male with chronic abdominal distention, constipation, and severe malnutrition is diagnosed with pediatric intestinal pseudo-obstruction (PIPO) after extensive evaluation that excluded mechanical, malabsorptive, metabolic, inflammatory, and infectious causes. Aside from speech delay, he has a normal neurologic exam. Whole exome sequencing reveals a pathogenic methyl-CpG binding protein 2 (MECP2) variant, suggesting atypical Rett syndrome. Management includes promotility agents and a gastrostomy tube with cyclic feedings of peptide-based formula, leading to resolution of symptoms. This case highlights the diagnostic complexity of PIPO and the need to consider genetic etiologies, including MECP2-related disorders, even in patients with mild neurologic findings. Early genetic testing and multidisciplinary care are essential for diagnosis and management in this atypical presentation of Rett syndrome with manifestation of PIPO.
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