A case report of pediatric neurotrophic keratopathy in pontine tegmental cap dysplasia treated with cenegermin eye drops.

RATIONALE: To report the management of recalcitrant neurotrophic keratopathy in a pediatric patient affected by pontine tegmental cap dysplasia (PTCD) using topical human recombinant nerve growth factor (hrNGF, Cenegermin 20 µg/ml). To the best of our knowledge the present case is one of the few described in patients with congenital NK treated with Cenegermin, and the first in a patient affected by PTCD. PATIENT CONCERNS: A 9-year-old patient, affected by PTCD with bilateral cranial nerve V1 and VIII palsies, was referred to our hospital for visual disturbances and redness of the right eye due to persistent neurotrophic epithelial defect. The patient presented marked developmental delay, ataxia, bilateral hypoacusia, and bilateral corneal severe hypoaesthesia. Ocular history revealed multiple treatments in order to treat neurotrophic ulcer in the left eye. Four years later, he developed a persistent epithelial defect with corneal anesthesia in the right eye. DIAGNOSES: The impaired trigeminal nerve function, due to the underlying congenital disease, led to the development of moderate NK (stage II) in the right eye and a mild NK (stage I) in the left eye. INTERVENTIONS: Cenegermin 20 µg/ml eye-drop was administered in both eyes. Treatment was continued for 8 weeks. The patient was assessed after 4 and 8 week of treatment. At each follow-up visit, treatment efficacy and adverse events were evaluated. OUTCOMES: The use of Cenegermin eye drops facilitated the remarkable resolution of the neurotrophic keratopathy and the improvement of corneal sensitivity in both eyes. No local or systemic adverse events were observed. LESSONS: Topical Cenegermin 20 µg/ml was well-tolerated and may represent a valuable therapeutic option in the management of pediatric neurotrophic keratopathy.

Ocular Findings in Pontine Tegmental Cap Dysplasia.

PURPOSE: To describe the ocular complications experienced by patients with pontine tegmental cap dysplasia (PTCD) and the management strategies used to care for these children. METHODS: Subjects with PTCD were recruited through social media advertisement and completed a survey gathering information on potential ocular problems related to the patient's PTCD disease and any current or previous treatments. RESULTS: Twenty-two patients or guardians completed the survey. Neurotrophic cornea was the most common ocular diagnosis (82%), followed by facial palsy (59%), dry eye syndrome (59%), and blepharitis (55%). Other diagnoses included cortical visual impairment (27%), strabismus (27%), amblyopia (18%), and nystagmus (18%). Common treatment modalities included lubricating eye drops (59%) or ointment (50%), contact lenses (14%), punctal plugs (27%), glasses (45%), and patching (18%). The most common surgical interventions were temporary or permanent tarsorrhaphy (64%) and amniotic membrane grafts (23%). In total, 68% of families reported self-injury to eyes and 91% reported the child to be primarily a visual learner. CONCLUSIONS: PTCD is a newly described, very rare disorder with a variety of vision-threatening ocular manifestations. It is essential that the ophthalmologist be aware of the potential for neurotrophic cornea because timely treatment could prevent corneal scarring, perforation, and blindness.

Case 266: Pontine Tegmental Cap Dysplasia.

History A 1-year-old boy was referred for cochlear implant assessment after he received a diagnosis of bilateral profound sensorineural hearing loss at neonatal hearing screening shortly after birth. The child was born at term via uneventful delivery, and there was no history of familial hearing loss or maternal illness. Tympanic membranes were normal, and hearing loss was confirmed with auditory brainstem testing, which showed no response from either ear. Hearing aids were provided from 3 months of age, but no behavioral responses were noted when these were worn. He was also noted to have some mild developmental delay throughout his 1st year of life and was slow to crawl, roll over, and stand up. Physical examination showed no syndromic features or physical abnormalities. Ophthalmology confirmed normal vision and visual movements but bilateral anesthetic corneas. He had corneal abrasions due to minor repeated corneal trauma, and left-sided tarsorraphy was performed at 6 months. Facial nerve function, swallow, and voice quality were normal. To assess suitability for a cochlear implant, the patient underwent MRI of the temporal lobe and brain and thin-section CT of the temporal bones. The patient subsequently underwent left cochlear implantation.

Pontine Tegmental Cap Dysplasia in an Extremely Preterm Infant and Review of the Literature.

Pontine tegmental cap dysplasia is a rare hindbrain malformation syndrome with a hypoplastic pons, a tissue protrusion into the fourth ventricle, and cranial nerve dysfunction. We here report clinical, imaging, and genetic findings of the first extremely low-birth-weight preterm infant with pontine tegmental cap dysplasia born at 25 weeks of gestation and provide an overview of 29 sporadic cases. A prenatally diagnosed hypoplastic and rostrally shifted cerebellum was indicative of a hindbrain defect and later identified as an early sign of pontine tegmental cap dysplasia in our patient. The neonate exhibited severe muscle hypotonia, persistent thermolability, and clinical signs of an involvement of facial, cochlear, and hypoglossal nerves. Furthermore, paroxysmal episodes of agonizing pain with facial tics, tonic and clonic muscle contractions, blepharospasm, and singultus are highlighted as new phenotypic features of pontine tegmental cap dysplasia. With our report, we present a severe case of pontine tegmental cap dysplasia and provide a brief overview of current knowledge on this rare disease.

Temporal bone and cranial nerve findings in pontine tegmental cap dysplasia.

INTRODUCTION: Pontine tegmental cap dysplasia (PTCD) is a recently described brain malformation associated with multiple cranial neuropathies, most commonly congenital sensorineural hearing loss. The purpose of this study is to systematically characterize the cranial nerve and temporal bone findings in a cohort of children with this rare condition. METHODS: Sixteen patients with PTCD and diagnostic quality imaging were retrospectively reviewed. All patients had high-resolution MR of the brain and/or internal auditory canals, and seven patients had additional high-resolution CT of the temporal bones. Studies were evaluated by two pediatric neuroradiologists for cranial nerve and temporal bone anomalies. RESULTS: Fifteen of 16 patients (94%) had duplication of one or both internal auditory canals. Of the 24 total duplicated internal auditory canals, all 24 (100%) demonstrated stenosis or atresia of the vestibulocochlear nerve canal, as well as ipsilateral vestibulocochlear nerve aplasia. Of the non-duplicated internal auditory canals, 63% (5/8) were atretic or stenotic. Thirty-eight percent (3/8) were associated with absent vestibulocochlear nerve, and 38% (3/8) demonstrated isolated cochlear nerve aplasia. Twenty-five percent (2/8) demonstrated normal vestibulocochlear nerves, both in the same patient. Fifteen of 16 patients overall (94%) demonstrated bilateral cochlear nerve aplasia. Of the 32 total temporal bones, 4 (13%) demonstrated facial nerve aplasia. Seventy-nine percent (22/28) of facial nerves that were present demonstrated an aberrant origin or course. CONCLUSION: Patients with PTCD have highly characteristic temporal bone and cranial nerve findings on both CT and MR. Recognition of these findings is important for improved diagnosis of this rare disorder, particularly by CT.

Pontine Tegmental Cap Dysplasia: MR Evaluation of Vestibulocochlear Neuropathy.

Pontine tegmental cap dysplasia (PTCD) is recently recognized as a rare congenital brain stem malformation with typical neuroimaging hallmarks of ventral pontine hypoplasia and vaulted pontine tegmentum projecting into the fourth ventricle. PTCD patients also demonstrate variable cranial neuropathy with predilection for involvement of the vestibulocochlear and facial nerves. We present a case of PTCD diagnosed on MRI in the neonatal period. During early infancy, the patient displayed features of multiple cranial neuropathies and bilateral hearing loss. At the age of 2, the patient underwent further MRI assessment with dedicated high resolution T2 SPACE sequence to delineate the cranial nerve deficiencies.