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[Protée syndrome associated with renal lithiasis and vesico-ureteral reflux]
S Ben Becher1, A Bouaziz, M M Harbi
1Service de Pédiatrie, Urgences et Consultations Externes, Hôpital d'enfants, Tunis-Jebbari, Tunisie.
Insights
Proteus syndrome, a rare condition, presents with diverse symptoms. This case highlights an unusual association with urinary tract issues, suggesting a potential link to ectomesodermal dysembryoplasy.
Area of Science:
- Medical Genetics
- Developmental Biology
Background:
- Proteus syndrome is a rare congenital disorder characterized by mosaic overgrowth.
- Key features include hemihypertrophy, nevi, and macrocephaly.
- Urinary tract abnormalities are seldom reported in Proteus syndrome.
Observation:
- A 6-year-old boy exhibited multiple congenital anomalies consistent with Proteus syndrome.
- He presented with significant hemihypertrophy on the left side, affecting skin, mucosa, and bones.
- The patient had a history of urinary lithiasis and ureterovesical reflux on the same side as the hemihypertrophy.
Findings:
- The case details extensive abnormalities in a child diagnosed with Proteus syndrome.
- The co-occurrence of severe hemihypertrophy and ipsilateral urinary tract pathology is noteworthy.
- Surgical intervention for urinary lithiasis and reflux was performed on the affected side.
Implications:
- This case suggests a possible link between Proteus syndrome and ectomesodermal dysembryoplasy.
- Further research and case reports are needed to confirm this association.
- Understanding these connections can improve diagnostic and management strategies for Proteus syndrome.
Background:
Proteus syndrome is characterized by a range of various manifestations. The main ones are partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly. Urinary tract abnormalities are exceptional.
Case Report:
A 6 year-old boy was examined because he had presented numerous abnormalities from birth. His weight was 26 kg (+3 SD) and his height was 135 cm (+4 SD). The main abnormalities were ptosis, pterygium colli, nevi of the cervical area, plagiocephaly, frontal bossing, scoliosis, hemihypertrophy involving the skin, mucosa and bones, macrodactyly, varicose veins and lipomatosis. He underwent surgery at the age of 3 years for urinary lithiasis associated with an ureterovesical reflux on the left side, i.e. the side of hemihypertrophy.
Conclusion:
This case suggests that Proteus syndrome may be an example of ectomesodermal dysembryoplasy but it requires confirmation by a report of at least one other case of obstruction of the ureteropelvic junction on the same side as hemihypertrophy.