Pediatric Use of Recombinant Human Nerve Growth Factor 20 µg/mL Eye Drops (Cenegermin) for Bilateral Neurotrophic Keratopathy in Congenital Corneal Anesthesia.

PURPOSE: This study aimed to present the efficacy and safety of cenegermin eye drop (Oxervate; Dompè Farmaceutici, Milan, Italy) treatment in a pediatric patient affected by neurotrophic keratopathy (NK) with Goldenhar syndrome. METHODS: This case reports an infant presenting ulceration and a small central opacity in the cornea of the right and left eyes, respectively. The NK bilaterally worsened despite the use of therapeutic contact lenses and temporary partial tarsorrhaphy. Magnetic resonance imaging showed absence and hypoplasia of the right and left trigeminal nerves, respectively. Cenegermin eye drops were administered 1 drop/each eye, 6 times daily for 8 weeks to promote corneal healing. RESULTS: Complete healing was achieved in both eyes after treatment. During the 16-month follow-up period, no epithelial defect, recurrence, or complications were noticed, whereas corneal opacities progressively became clearer, although insignificant improvements in corneal sensitivity or in the reflex tearing were observed. CONCLUSIONS: Cenegermin was effective in treating NK in an infant with Goldenhar syndrome.

Congenital Corneal Anesthesia and Neurotrophic Keratitis: Diagnosis and Management.

Neurotrophic keratitis (NK) is a rare degenerative disease of the cornea caused by an impairment of corneal sensory innervation, characterized by decreased or absent corneal sensitivity resulting in epithelial keratopathy, ulceration, and perforation. The aetiopathogenesis of corneal sensory innervation impairment in children recognizes the same range of causes as adults, although they are much less frequent in the pediatric population. Some extremely rare congenital diseases could be considered in the aetiopathogenesis of NK in children. Congenital corneal anesthesia is an extremely rare condition that carries considerable diagnostic and therapeutic problems. Typically the onset is up to 3 years of age and the cornea may be affected in isolation or the sensory deficit may exist as a component of a congenital syndrome, or it may be associated with systemic somatic anomalies. Accurate diagnosis and recognition of risk factors is important for lessening long-term sequelae of this condition. Treatment should include frequent topical lubrication and bandage corneal or scleral contact lenses. Surgery may be needed in refractory cases. The purpose of this review is to summarize and update data available on congenital causes and treatment of corneal hypo/anesthesia and, in turn, on congenital NK.

Propranolol-responsive cranial nerve palsies in a patient with PHACES syndrome.

PHACES syndrome is a neurocutaneous disorder characterized by the presence of segmental hemangiomas with associated anomalies of the posterior fossa, cerebral vasculature, cardiovascular system, eyes, and ventral or midline structures. We present the first case of propranolol-responsive congenital trigeminal and facial nerve palsies secondary to an intracranial hemangioma in a patient with PHACES syndrome.

Congenital trigeminal anaesthesia: a rare preventable cause of visual loss in children.

Congenital trigeminal anaesthesia (CTA) is a rare condition characterised by a congenital deficit involving all or part of the sensory component of the trigeminal nerve in children. It is a heterogeneous condition that can present in isolation or is associated with congenital abnormalities affecting the mesoderm, ectoderm and/or brainstem. The authors report a case of a 4-year-old girl who presented with reduced visual acuity, painless bilateral keratitis and painless non-healing lesions on the face, who was confirmed to have CTA on detailed neurophysiological investigations. She also had associated unilateral renal dysplasia and Duane syndrome. The authors also discuss an up-to-date review of the published cases of CTA in literature, the first of which was reported as early as 1984.

[Non-oculomotor eye involvement in Moebius sequence]. / Nichtokulomotorische Augenbeteiligung bei Möbius-Sequenz.

Moebius sequence is a congenital disorder that not only affects the oculomotor system but also the eyes themselves. Ocular involvement might be sight-threatening and needs regular follow-up by an ophthalmologist.

Marcus Gunn jaw winking with trigemino-oculomotor synkinesis of the inferior division of the oculomotor nerve.

Synkinetic aberrant innervation syndromes can involve abnormal movements of multiple extraocular and eyelid muscles. The authors describe a case of eyelid elevation associated with simultaneous adduction and depression of the eye upon chewing, sucking on a bottle, or wide opening of the mouth since birth. This represents a unique case of congenital Marcus Gunn jaw winking with trigemino-oculomotor synkinesis involving the inferior branch of the oculomotor nerve. The most likely explanation for these abnormal movements is prenatal aberrant innervation of eyelid and extraocular muscles.

Bilateral congenital trigeminal sensorimotor neuropathy presents as a severe open-bite malocclusion.

Trigeminal neuropathy is commonly seen as a disorder of sensation in the distribution of the fifth cranial nerve. An 18-year-old girl was referred to our hospital because of a severe anterior open-bite deformity with a long face after presurgical orthodontic treatment. Surgical plan was maxillary posterior impaction with anterior advancement, mandibular setback operation, and genioplasty with vertical chin reduction in one stage. One month after surgery she had still difficulty closing her mouth. With the help of her hands, she could close her mouth fully on normocclusion. Weakness of the jaw-closing muscles was confirmed with muscle testing. She had impaired sensation to light touch and pinprick in the distribution of the maxillary and mandibular divisions of the bilateral trigeminal nerves. T1-weighed MRI of the brain showed bilaterally atrophy of the muscles innervated by the trigeminal motor nerve (i.e., the masseter, medial and lateral pterygoids, and temporalis muscles). We thoroughly evaluated our patient through history and clinical, laboratory, electrophysiological, and radiological examinations. The motor and the sensory V2 and V3 branches of the trigeminal nerve were congenitally damaged. As far as we know, this case is the first bilateral congenital trigeminal sensorimotor neuropathy presented with maxillo-mandibular and a severe open-bite deformity.

Anestesia congênita de córnea associada à anestesia de ramo do trigêmio: relato de caso / Congenital corneal anesthesia related to trigeminal anesthesia: case report

A anestesia corneana por ser uma condição rara, freqüentemente é confundida ou não diagnosticada durante o exame de rotina do segmento anterior. Relato de caso de um paciente de 18 anos encaminhado ao ambulatório de córnea e doenças externas com quadro clinico de síndrome de olho seco e com diagnóstico provável de síndrome de Sjõgren. Era amblíope de olho direito devido à opacidade corneana no eixo visual secundária a trauma com unha na infância. Foi pesquisada sensibilidade corneana que era ausente em ambos os olhos; olho seco grave e com BUT (tempo de quebra do filme lacrimal) menor que 4 segundos. Foi feito diagnóstico de anestesia corneana congênita associada a hipoestesia do nervo trigêmio pela avaliação neurológica da sensibilidade facial e movimentos bruscos do queixo que evidenciavam alterações sensoriais do nervo. O oftalmologista geral e principalmente o especialista em segmento anterior devem ter como rotina a pesquisa da sensibilidade corneana no exame do segmento anterior.

[Congenital corneal anesthesia related to trigeminal anesthesia: case report]. / Anestesia congênita de córnea associada à anestesia de ramo do trigêmio: relato de caso.

Corneal anesthesia is a rare condition, therefore its diagnosis is frequently impaired or it is not noticed during the anterior segment examination. Case report of a 18-year-old patient referred to our Corneal and External Disease Department who complained of dry eye symptoms and with a suspicion of Sjögren's syndrome. She had amblyopia of the right eye, consequence of corneal leucoma over the visual axis secondary to a fingernail traumatism inflicted by herself in childhood. On the ophthalmologic examination corneal sensitivity was absent in both eyes. Severe dry eye and breakup time less than four seconds. Diagnosis of congenital corneal anesthesia was established, secondary to trigeminal anesthesia found on neurological evaluation of facial sensitivity. She also showed sudden movements of the chin which evidenced sensorial pathology of the trigeminal nerve. The general ophthalmologist and specially anterior segment specialists must perform tests for corneal sensitivity during the routine eye examination.

Congenital trigeminal anaesthesia.

Two patients with congenital trigeminal nerve anaesthesia are described. The first (male, aged 14 years) had an isolated unilateral loss of sensation in all three divisions of the trigeminal nerve with no other abnormalities. The second patient (male, aged 3 years 6 months) had bilateral loss of sensation in all three divisions of the trigeminal nerve, associated with other neurological abnormalities. No explanation for their abnormalities was found. The Rosenberg classification of congenital trigeminal anaesthesia is discussed with reference to these patients and also with reference to the developmental biology of the trigeminal nerve.

Marcus Gunn jaw winking with trigemino-abducens synkinesis.

Congenital ocular aberrant innervation syndromes are a complex group of disorders involving abnormal miswiring of the extraocular muscles. This case report describes a child with both a right Marcus Gunn jaw winking phenomenon and a right trigemino-abducens synkinesis, which has not previously been reported in the literature. Clinically, this child presented with an intermittent elevation of the right eyelid and/or an intermittent right exotropia when opening her mouth while sucking or chewing. This case suggests the primary abnormality in this patient may be abnormal development of the trigeminal nerve resulting in the eyelid abnormalities and strabismus.

Congenital trigeminal anesthesia in two siblings and their long-term follow-up.

PURPOSE: To alert ophthalmologists to congenital trigeminal anesthesia as a cause of corneal scarring and amblyopia and its effective treatment with tarsorrhaphies. METHODS: Case reports. A 2-month-old infant presented with bilateral corneal erosions and complete corneal anesthesia. Her sister presented at age 3 years with a corneal ulcer and corneal hypoesthesia (sensation markedly decreased). The father and paternal grandmother of the siblings also had corneal hypoesthesia. RESULTS: Further investigation of the infant revealed bilateral hearing loss, swallowing difficulties, and decreased sensation in the trigeminal nerve distribution. A diagnosis of congenital trigeminal anesthesia was made. The corneal erosions of the patient resolved with bilateral two-thirds width tarsorrhaphies. The girl continues to do well now at 10 years of age with ocular lubrication and superficial corneal scar removal. Her older sister initially required antibiotic ointment for her corneal ulcer but now requires only ocular lubrication for congenital trigeminal anesthesia. CONCLUSION: This study describes the earliest reported use of tarsorrhaphies in an infant with congenital trigeminal anesthesia. The presence of this condition in her sister and relatives makes it one of the few reports of congenital trigeminal anesthesia in more than two generations. Early recognition of this condition is essential in the preservation of useful vision.