Keratopathy as a sign for a multifocal hereditary polyneuropathy a case report
U. Kottler1, O. Schwenn1, H. H. Goebel2, P. Urban3
Case: 63-year old woman with bilaterally recurrent corneal ulcerations since ten years, vascularisation of the cornea and absence of corneal sensitivity.
Other symptoms: Multifocal anesthesia with hypalgesia of hand and leg; left-sided hypacusis; amputation of two toes due to cutaneous ulcerations. Drugs: Digitoxin, Ramipril, Furosemid, ASS because of arterial hypertension, cardiac insufficiency and atrial fibrillation. Grandmother and maternal aunt with hypacusis, a brother with signs of a sensory neuropathy, but no other relative had any sensory deficit.
Further examinations: generalized lack of deep tendon reflexes, absence of somato-sensory evoked potentials (SSEP) and of sensory nerve action potentials (SNAP); motor and autonomic nerve studies showed normal results. Sural nerve biopsy demonstrated extreme lack of myelinated fibers without any signs of destruction and without notation of inflammatory cell reaction or deposit of amyloid. Aquired reasons for poylneuropathy were excluded.
Therapeutic interventions: Subsequent to the local ocular therapeutics we carried out the perforating corneal transplantation at the left eye because of the corneal scars. This had to be repeted two years later because of vascularisation of the transplant. The visual function of the left eye could be stabilized at values between 0,2 and 1/50.
Conclusion: History and examination are compatible with the diagnosis of a hereditary sensory neuropathy type II (HSAN II) including cerebral nerves, especially the trigeminal area. There is a reduced prognosis for corneal transplantation in patients with neuropathy and reduced corneal sensitivity.
1University Eye Clinic, 2Institute for Neuropathology 3Neurologic Clinic of the Johannes-Gutenberg-University Mainz, Langenbeckstr. 1, D - 55131 Mainz