1/4. Proposal for a standardized protocol for the systematic orofacial examination of patients with Hereditary Sensory Radicular Neuropathy.AIM: To apply a standardized protocol for the orofacial evaluation of two adult siblings (one male and one female) with Hereditary Sensory Radicular Neuropathy (HSRN) that presented with dental problems. SUMMARY: The systematic evaluation consisted of (a) clinical questionnaire; (b) radiographs [orthopantomography and computarized tomography (CT)]; (c) orofacial psychophysical tests (pain, thermal, mechanical and electrical sensation); and (d) histology of gingiva and pulp (optical and transmission electronic microscopy). The female patient had complete insensitivity to orofacial pain and partial facial heat sensitivity, and received dental treatment without anaesthesia or pain. She had a severe and painless jaw infection due to pulp necrosis in tooth 37. The male patient had partial insensitivity to orofacial pain and required anaesthesia for dental treatment. Histological examination of gingivae and pulpal tissue revealed an altered proportion of unmyelinated and myelinated sensory nerve fibres. KEY learning POINTS: * patients with HSRN may present with significant, silent dental disease. * A standard protocol is helpful when evaluating such patients. * If the opportunity arises, evaluation of pulp tissue may reveal an altered proportion of myelinated and unmyelinated nerve fibres. This may avoid the more estabilished sural nerve biopsy.- - - - - - - - - - ranking = 1keywords = anaesthesia (Clic here for more details about this article) |
2/4. Self-inflicted corneal injuries in children with congenital corneal anaesthesia.Severe corneal ulceration related to self-inflicted injury in the presence of congenital corneal anaesthesia is described in four boys under 2 1/2 years of age. The ulcers had failed to heal until it was recognised that the children were scratching their own eyes. The application of arm splints allowed rapid healing. Although corneal ulceration is a recognised complication of congenital corneal anaesthesia, this preventable cause of the ulceration has not previously been recognised. In two cases there were isolated recurrences which healed quickly with the reapplication of splints. All four children had good vision initially, and, although there were no overt gross development abnormalities, two had neurological signs on detailed investigation suggesting cerebellar or brain stem malformation and one had unilateral anophthalmos, talipes equinovarus, and patent ductus arteriosus. All the children showed normal intellectual development. Whether the eye scratching behaviour was the primary cause of the ulceration or merely an aggravating factor, the identification of this abnormal behaviour is important in any child with idiopathic corneal ulceration, as even in the presence of congenital corneal anaesthesia the eyes heal quickly with effective splinting of the elbows. It is therefore important to test sensation of the cornea and face and to consider the possibility of self-inflicted injury in children with refractory corneal ulceration, as in our cases there were no other consistent diagnostic features.- - - - - - - - - - ranking = 3.5keywords = anaesthesia (Clic here for more details about this article) |
3/4. Congenital corneal anaesthesia and the MURCS association: a case report.Bilateral corneal anaesthesia and reduced sensation in the distribution of the ophthalmic division of the fifth cranial nerve associated with neuroparalytic keratitis and reduced vision is described in a 26-year-old woman with absence of the fallopian tubes, uterus, and upper vagina, a single pelvic kidney, and cervico-thoracic vertebral anomalies (the MURCS association). Other features of the disorder also present were short stature, facial asymmetry, micrognathia, and cleft palate. The neuroparalytic keratitis did not respond to tear substitutes and bilateral lateral tarsorrhaphies were eventually needed. This is the first report of congenital corneal anaesthesia in a case of MURCS.- - - - - - - - - - ranking = 3keywords = anaesthesia (Clic here for more details about this article) |
4/4. Congenital trigeminal neuropathy in oculoauriculovertebral dysplasia-hemifacial microsomia (Goldenhar-Gorlin syndrome).A 2 1/2 year old child with clinical features of Goldenhar-Gorlin syndrome showed diminished pinprick sensation over the right half of the face. After surgery for the cleft lip, the child died. Neuropathological investigations showed agenesis of the right trigeminal nerve and hypoplasia of the right trigeminal brain-stem nuclei. Nosological aspects of the Goldenhar-Gorlin syndrome and previously reported cases of congenital trigeminal anaesthesia in this disorder are discussed. It is suggested that the hypoplasia of the trigeminal nerve is responsible for the diminished facial sensation seen in some patients with this craniofacial syndrome.- - - - - - - - - - ranking = 0.5keywords = anaesthesia (Clic here for more details about this article) |