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Pontine tegmental cap dysplasia: report of two new cases from Kuwait
Marina Jovanovic1, Mohammed Zakkhariah Chinnathambi1, Ivana Markovic2
1Al Adan Hospital, Pediatric Department, Neurology Unit, Kuwait.
Insights
Pontine tegmental cap dysplasia (PTCD) is a rare brain malformation affecting cranial nerves V, VII, and VIII. This study highlights two new cases, including a novel association with Tetralogy of Fallot.
Area of Science:
- Neuroscience
- Developmental Biology
- Genetics
Background:
- Pontine tegmental cap dysplasia (PTCD) is a rare congenital brain malformation.
- It is characterized by specific abnormalities in the pons and associated cranial nerve deficits.
Observation:
- Two pediatric patients, a Filipino boy (2.7 years) and a Kuwaiti girl (4.8 years), presented with symptoms consistent with PTCD.
- Clinical manifestations included feeding difficulties (cranial nerve VII), sensorineural deafness (cranial nerve VIII), congenital hypotonia, and corneal opacities due to loss of corneal sensation (cranial nerve V).
- Severe psychomotor developmental delay was noted in both patients.
Findings:
- Brain MRI revealed a flattened ventral pons, a vaulted "cap"-like structure protruding into the fourth ventricle, and a "molar tooth" sign, consistent with PTCD.
- One patient had Tetralogy of Fallot (TOF), which was successfully surgically corrected.
- This is the first reported case of TOF associated with PTCD.
Implications:
- The findings expand the known clinical spectrum of PTCD.
- The association with TOF suggests potential underlying genetic or developmental pathways that warrant further investigation.
- Early diagnosis and comprehensive management are crucial for patients with PTCD and associated anomalies.
Abstract:
We describe two patients (a Filipino boy aged 2.7 years and a Kuwaiti girl aged 4.8 Years) with clinical and MRI findings consistent with the diagnosis of pontine tegmental cap dysplasia (PTCD) and compare them with 23 other cases reported in the literature. Both presented with feeding problems (VII nerve), sensori-neural deafness (VIII nerve) and hypotonia from birth and later developed corneal opacities due to loss of corneal sensation (V nerve). They have severe psychomotor developmental delay. The MRI of their brain showed a flattened ventral pons, vaulted "cap"- like structure protruding into 4th ventricle and a "molar tooth" sign. One of our patients also had Tetralogy of Fallot (TOF) successfully corrected. The other had no extracranial manifestations. The findings in our patients are similar to those reported except for the occurrence of TOF which has not been reported before in association with PTCD.