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Esophageal dysmotility in brothers with an FG-like syndrome
R L Smith1, M J Edwards, E Notaras
1Department of Pediatrics, John Hunter Hospital, New Lambton Heights, Australia.
Abstract:
We present 4 brothers with developmental delay, minor anomalies, and symptoms due to gastrointestinal dysmotility. There was some resemblance with FG syndrome, although none of the brothers had sufficient findings to make this diagnosis. The index case presented with at age 1 month with screaming episodes, mild gastro-esophageal reflux (GER), and severe constipation. Esophageal manometry studies were consistent with the diagnosis of "nutcracker esophagus." Symptomatic and manometric improvement followed treatment with oral calcium channel blockers. Two older and less severely affected brothers had similar manometric findings but did not require treatment. A fourth brother with symptoms in infancy now has normal esophageal manometry findings. These boys in all likelihood have an X-linked syndrome with manifestations of FG syndrome, in which treatment with calcium channel blockers, produces clinical and manometric improvement. The FG syndrome is an X-linked syndrome of multiple congenital anomalies/mental retardation with facultative manifestations of gastrointestinal dysmotility, including gastro-esophageal reflux, severe feeding difficulties, and constipation. Esophageal dysmotility, in particular "nutcracker esophagus," should be suspected in infants with the FG syndrome and screaming attacks.
Insights
This study identifies a potential X-linked syndrome resembling FG syndrome, characterized by developmental delay and gastrointestinal issues like nutcracker esophagus. Calcium channel blockers effectively treated symptoms and improved esophageal motility.
Area of Science:
- Genetics
- Pediatrics
- Gastroenterology
Background:
- FG syndrome is an X-linked disorder associated with congenital anomalies, intellectual disability, and potential gastrointestinal dysmotility.
- Gastrointestinal issues in FG syndrome can include gastro-esophageal reflux, feeding difficulties, and severe constipation.
- Esophageal dysmotility, such as nutcracker esophagus, may be a presenting symptom in infants with FG syndrome.
Observation:
- Four brothers presented with developmental delay, minor anomalies, and symptoms suggestive of gastrointestinal dysmotility.
- The index case exhibited screaming episodes, mild gastro-esophageal reflux, and severe constipation at one month of age.
- Esophageal manometry revealed findings consistent with nutcracker esophagus in the index case.
Findings:
- Symptomatic and manometric improvement was observed following treatment with oral calcium channel blockers.
- Two elder brothers showed similar manometric findings but did not require treatment.
- A fourth brother's esophageal manometry normalized after infantile symptoms.
Implications:
- These cases suggest an X-linked syndrome with FG syndrome manifestations, responsive to calcium channel blockers.
- Early suspicion of esophageal dysmotility, particularly nutcracker esophagus, is crucial in infants with FG syndrome and screaming attacks.
- Calcium channel blockers may offer a therapeutic option for managing esophageal dysmotility in this specific X-linked condition.