Congenital corneal anesthesia.

Congenital corneal anesthesia is a rare clinical entity that poses a diagnostic dilemma, particularly in the pediatric age group. The sensory deficit may be confined to the cornea, or extend to other divisions of the trigeminal nerve. The sensory deficit may occur as an isolated abnormality, as part of a complex neurological syndrome, or it may occur in association with multiple somatic abnormalities and congenital insensitivity to pain. This condition usually presents between the ages of 8 to 12 months. Poor vision, photophobia, conjunctival injection, and corneal ulceration in the absence of pain and distress in a child should alert the clinician to the possibility of anesthetic cornea. In the early stages of presentation, punctuate keratopathy is the main feature, which may progress to non-healing persistent corneal epithelial defects. This stage may progress to acute corneal lysis and perforation. In most patients, conservative approaches such as copious lubrication, prevention of self-harm and cautious use of bandage contact lenses are effective in preventing progressive corneal damage. Tarsorrhapy is effective in promoting epithelial healing and permanent lateral tarsorraphy may prevent further development of epithelial defects. Amniotic membrane graft may be considered in order to improve epithelial healing. Corneal grafts carry a poor prognosis. Accurate initial diagnosis, evaluation, and proper management are paramount to prevent visual loss due to long-term complications of corneal anesthesia. This review of the literature outlines the problems and approaches in diagnosis, evaluation, and management of this rare condition.

Use of nerve growth factor to treat congenital neurotrophic corneal ulceration.

PURPOSE: This study was designed to assess the efficacy of nerve growth factor in the treatment of neurotrophic corneal ulceration in a child with bilateral congenital corneal anesthesia secondary to trigeminal insufficiency. METHODS: A 5-month-old child presented to the casualty department with a 2-week history of red eyes and right corneal ulceration. Slit-lamp examination showed a central defect in the right corneal epithelium with underlying stromal opacification, only mild conjunctival inflammation with slight decreased tear production, and otherwise apparently normal eyes. Initially this was investigated as an infected ulcer and treated for several weeks as herpetic ulceration with no beneficial effect. Further clinical examination demonstrated bilateral decreased corneal sensation along with decreased facial sensation in keeping with congenital trigeminal nerve insufficiency. Investigation with magnetic resonance imaging showed no obvious abnormality. Conservative treatment with lubricants resulted in progressive right corneal stromal loss, and no healing occurred in the left corneal ulcer. Bilateral large lateral tarsorrhaphies were performed. Despite this, the left corneal ulcer demonstrated no improvement and increasing stromal opacification was noted. Topical nerve growth factor (NGF) was then used to treat the left cornea and resulted in epithelial healing within 1 week. Treatment was continued for a further 10 days after epithelial healing. Despite conventional treatment on 3 separate occasions, further epithelial breakdown occurred. Topical NGF treatment resulted in a rapid improvement and healing of the epithelial defect.'At present, the patient is receiving a 6-month continuous treatment plan of NGF. RESULTS: Persistent epithelial defects (PED) secondary to neurotrophic ulceration have responded to topical NGF on 3 separate occasions during a 2-year period. The corneal epithelium now remains intact, and the cornea has no vascularization; however, mild anterior stromal opacification has gradually increased despite prolonged NGF treatment. CONCLUSION: NGF seems to represent a safe and efficacious treatment option to restore the integrity of corneal epithelium in which there is congenital corneal anesthesia because of trigeminal insufficiency. However, this treatment alone is insufficient to prevent progressive anterior stromal opacification.

[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.

Corneal neurotization from the supratrochlear nerve with sural nerve grafts: a minimally invasive approach.

Corneal anesthesia is a debilitating condition which can ultimately lead to blindness from repetitive corneal injury and scarring. We have developed a minimally invasive technique for corneal re-innervation that we have used with excellent results in ten eyes. This article and accompanying video describes the relevant anatomy and demonstrates the technique in detail.

Congenital corneal anesthesia.

PURPOSE/METHODS: The case of a 7-month-old infant illustrates the diagnostic findings, including magnetic resonance imaging, and the difficulties of treating congenital corneal anesthesia. RESULTS/CONCLUSIONS: The diagnosis of sporadic idiopathic congenital corneal anesthesia was one of exclusion. Normal gasserian ganglia were demonstrated on magnetic resonance imaging. Visual rehabilitation was successful with continuous lubrication, arm splinting at bedtime, and treatment of amblyopia. It continues to be essential for the parents to monitor the corneal status.

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.

Congenital corneal anesthesia: a series of four case reports.

PURPOSE: Discussion of four cases of congenital corneal anesthesia with varied systemic associations and modes of presentation. Classification and systemic associations of congenital corneal anesthesia along with the importance of multi-specialty evaluation of such patients. METHODS: Clinical examination of all four cases and corneal sensation assessment with Cochet-Bonnet esthesiometer. Thorough systemic examination and investigations including serum bio-chemical analysis, roentgenography, ultrasonography, nerve conduction studies, and CT scan of the patients to identify systemic associations. RESULTS: All four patients proved to have bilateral congenital corneal anesthesia with Cochet-Bonnet esthesiometry confirming corneal anesthesia. Systemic examination revealed associated congenital mesenchymal anomalies in the first case. The second case had generalized reduction in pain sensitivity confirmed by nerve conduction studies. The third case was an isolated bilateral congenital corneal anesthesia, while the fourth was a case of congenital trigeminal nerve anesthesia involving all three divisions of both trigeminal nerves. Other causes of corneal anesthesia and self-inflicted corneal injuries were ruled out by clinical multi-specialty evaluation and appropriate investigations. Correct diagnosis and symptomatic treatment aided speedy relief of symptoms of all the patients. CONCLUSION: Congenital corneal anesthesia is a rare condition and is often a diagnostic dilemma. Although more common conditions that cause corneal anesthesia can mislead the clinician, the congenital variant should be kept in mind in any case of intractable corneal ulceration in children. Early diagnosis, symptomatic treatment and measures to prevent further corneal damage will immensely help in retaining useful vision for the affected children.

Congenital corneal anesthesia.

PURPOSE: To report the various clinical presentations of congenital corneal anesthesia. METHODS: The medical records of children diagnosed with congenital corneal anesthesia between January 2006 and June 2012 at the L.V. Prasad Eye Institute, Hyderabad, India, were retrospectively reviewed for demographics and clinical characteristics. RESULTS: A total of 40 patients (29 males) were included. Median age at presentation was 12 months (interquartile range, 6-60 months). Bilateral involvement was noted in 28 cases (70%). Generalized pain insensitivity with anhidrosis was documented in 10 cases (25%). The spectrum of corneal lesions included geographic epithelial defects (32 eyes), sterile ulcers (15 eyes), sterile ulcers with hypopyon (11 eyes), secondary bacterial keratitis (2 eyes), superficial/ deep corneal vascularisation (5 eyes). Generalized anesthesia with self-mutilating behavior was recognized in 10 cases. In all cases, sterile corneal ulcers resolved on average 30 days after permanent 2/3-width paramedian tarsorrhapy. One eye progressed to the stage of anterior staphyloma and subsequently underwent auto evisceration. Four eyes that underwent keratoplasty for visual rehabilitation had poor outcomes. CONCLUSIONS: Accurate diagnosis, recognition of risk factors, and thorough neurological assessment is important for lessening long-term sequelae of congenital corneal anesthesia. Judicious use of tear substitutes and expedited tarsorrhaphy is crucial to restoration of useful vision in these children.

A case of congenital corneal anesthesia with hypopyon in china.

PURPOSE: To report a case of congenital corneal anesthesia (CCA) associated with hypopyon and tactile hypoesthesia. METHODS: Case report. RESULTS: A 3-year-old girl presented with redness and mild photophobia in the left eye accompanied by corneal ulcer, hypopyon, and corneal neovascularization. Corneal sensation was reduced bilaterally. She exhibited an absence of normal response to painful stimuli. She also had extensive ulceration of the lateral borders and tip of the tongue. The left corneal biopsy revealed negative cultures for bacteria and fungi. She was treated with human amniotic membrane transplantation in the left eye. The response to treatment was good. CONCLUSION: This is the first case of CCA reported in China. CCA is often misdiagnosed as infectious keratitis. Amniotic membrane transplantation is effective in repairing the severe corneal ulcer which may be associated with CCA.

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.

Congenital idiopathic inability to perceive pain: a new syndrome of insensitivity to pain and itch with preserved small fibers.

Individuals vary widely in their sensitivity to painful stimuli. Some exhibit heightened reactions to pain (hyperpathia), while others show relative indifference. Although multiple factors may be responsible for these differences, varying sensitivities to pain also can be due to underlying differences in nociceptive neurophysiology. We present here the case of an individual with an apparent congenital inability to perceive pain. This patient appears to be different from other reported cases of insensitivity to pain described in the medical literature. He exhibited no evidence of an abnormality of the peripheral or autonomic nervous system and no apparent abnormality of the central nervous system other than isolated deficits in pain and temperature perception. Since pain is a subjective phenomenon, there is no definitive way to assess this patient's reported inability to perceive painful somatic stimulation, but available evidence suggests he has a defect in the supraspinal processing of nociceptive stimuli which renders him insensitive to pain. This raises the possibility of either deficient central nociceptive functioning or aberrant endogenous anti-nociceptive functioning.

Congenital corneal anisohypesthesia: report of a case.

A neuroparalytic ulcer developed only in the right eye of a three-year-old girl with bilateral congenital corneal hypesthesia. The central parts of the cornea in both eyes were practically isohypesthetic, but there was a marked difference in sensitivity in the peripheral zones of the right and left cornea. Presumably there was sufficient peripheral antidromic activity of the sensory nerves in the left cornea to prevent the development of a neuroparalytic ulcer.

Monocanalicular intubation for dacryostenosis in oculo-auriculo-vertebral dysplasia (hemifacial microsomia) with congenital corneal anesthesia.

PURPOSE: To present a case of oculo-auriculo-vertebral dysplasia associated with corneal anesthesia and ipsilateral dacryostenosis that was successfully treated with monocanalicular lacrimal intubation. METHODS: Case report. RESULTS: Previous neurotrophic corneal ulcers in a child with hemifacial microsomia had become secondarily infected from a stagnant tear lake, resulting in significant corneal scarring and visual loss. A single monocanalicular stent maintained nasolacrimal patency without causing further corneal trauma, despite constant medial gaze because of wide lateral tarsorrhaphy and contralateral occlusion therapy for amblyopia. CONCLUSIONS: Monocanalicular stents may aid the treatment of dacryostenosis in the face of compromised corneal sensation.

[Orthopedic aspects of congenital insensitivity to pain]. / Les aspects orthopédiques de l'insensibilité congénitale à la douleur.

The congenital insensitivity to pain regroups some rare diseases which are mainly 5: congenital insensitivity to pain; congenital sensitive neuropathies; distal sensitive neuropathies; Riley-Day syndrome or hereditary dysautonomia; at last, miscellaneous troubles. Three different cases are reported in children: true congenital insensitivity to pain; hereditary dysautonomia or Riley-Day syndrome; congenital insensitivity to pain localised to a lower limb joined to amniotic disease and abnormality of this limb. The orthopedic symptoms (osteomyelitis, arthropathies as Charcot type, dislocations, fractures) lead often to diagnosis and they are an important step of the prognosis. Scoliosis seems to be frequent in this disease. The orthopedic and surgical treatment, according to each localization, is difficult and must emphasize the prevention of bones and joints injuries.

[Unilateral trigeminal nerve hypoplasia]. / Einseitige Trigeminushypoplasie.

BACKGROUND: Isolated unilateral corneal anaesthesia represents a very rare clinical entity. The underlying cause may be a hypoplasia of the trigeminal nerve. HISTORY AND CLINICAL FINDINGS: A 7 year old otherwise healthy boy presented with mixed conjunctival injection of the left eye, fluorescein-positive punctuate epithelial keratopathy of the cornea and a central corneal ulcer OS. History revealed intermittent, painless redness of the left eye since the age of 4. Trigeminal defects caused by trauma or infection could be ruled out. Tyndall's phenomena was positive. There was no corneal sensitivity on the left side and facial sensitivity was reduced in all branches of the trigeminal nerve. All other ophthalmologic examination results were normal. Magnetic resonance tomography showed a hypoplastic left trigeminal nerve. Mesenchymal syndromes could be ruled out by neuropediatric examination. THERAPY AND CLINICAL COURSE: Treatment with prednisolone and antibiotic ointment and eye patching were performed. The ulcer healed completely and artificial tear substitution was given for prophylaxis. Follow-up examinations after 4 and 6 years showed no signs of inflammation. Biomicroscopy showed only mild fluorescein-positive corneal epitheliopathy. CONCLUSIONS: In cases with painless intermittent keratoconjunctivitis, sometimes associated with corneal ulceration, in early childhood, one should consider acquired or congenital trigeminal anaesthesia. This condition requires life-long corneal ulcer prophylaxis and regular ophthalmologic exams.

Unusual anatomic variation of palmar sensory branches of the ulnar nerve: a case report.

Variant sensory branches of the ulnar nerve were encountered during a routine dissection of the palmar aspects of a cadaver hand. The variant branches were distributed to the ulnar half of the index, ulnar half of the middle, and radial half of the ring fingers. The communicating branch between the superficial ulnar branch and the third common digital branch of the median nerve was absent. Distribution of the median nerve sensory branches was normal. The clinical significance of this variation is discussed.