Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy.

Five siblings of a Danish family with slowly progressive involvement of the trigeminal, facial, glossopharyngeal, accessory, and hypoglossal nerves beginning at the age of 55-65 years were examined. All had asymptomatic corneal lattice dystrophy. Clinical and electrophysiological investigations also showed evidence of slight neurogenic involvement of the limbs. Conduction velocity along sensory nerves was normal but amplitude of sensory potentials was severely reduced suggesting an axonal affection which was confirmed by sural nerve biopsy. The neuropathy was secondary to amyloidosis revealed by skin and sural nerve biopsies.     

Idiopathic AA amyloidosis manifested by autonomic neuropathy, vestibulocochleopathy, and lattice corneal dystrophy.

A 69-year-old Japanese woman with non-familial amyloidosis had polyneuropathy and profound autonomic neuropathy, and kappa chain monoclonal gammopathy. Immunohistopathological examination showed protein AA and protein AP in the amyloid deposits. She showed involvement of the vestibulocochlear nerve and lattice dystrophy of the cornea. Vestibulocochleopathy and corneal lattice dystrophy have been reported in familial amyloid polyneuropathy type IV, Finnish type, but never in non-familial amyloidosis.     

家族性原发性颅神经疾病一例报告并文献复习

目的 报告家族性原发性颅神经疾病1例,并对其病因学及治疗学进行探讨. 方法1例家族性原发性颅神经疾病,调查其三代共有5例原发性颅神经疾病患者,包括了三叉神经痛、面肌痉挛、舌咽神经痛等7侧(根)颅神经病变,其中3例采用手术治疗.结果 患者A,右三叉神经痛发病10年后行右三叉神经周围支撕脱术,术后疼痛好转,随访10年至患者去世未再发生严重发作.患者B,右三叉神经痛发病10年后行右三叉神经根显微血管减压术及感觉根选择性部分切断术,术后疼痛消失,随访14年未复发;5年前出现左三叉神经痛,2004年10月行左三叉神经根显微血管减压术,术后疼痛消失,随访44个月未复发.患者C,右舌咽神经痛10年,曾行显微血管减压术及舌咽神经根、迷走神经根丝选择性部分切断术等3次手术,前2次手术无效,第3次手术后有效,半年后出现右三叉神经痛,行右三叉神经根显微血管减压术后治愈.患者D,左面肌痉挛7年,未手术.患者E,右三叉神经痛1年,未手术.结论 家族性原发性颅神经疾病罕见.原发性颅神经疾病出现家族性泛发病例可能与后颅窝容积小、后循环解剖变异、颅神经高易感性、血管迂曲硬化延长等异常发生率高有关,可用颅神经进或出脑干区血管压迫学说解释其病因.颅神经根显微血管减压术可作为首选外科治疗方法.     

Cranial neuropathy associated with primary amyloidosis

We report 6 patients for whom cranial neuropathy was a major manifestation of primary amyloidosis. In 3 of the 6, multiple cranial nerves were involved. All had tissue biopsy documentation of amyloidosis. In 2, nerve biopsy also confirmed amyloidosis. All had renal involvement manifested by proteinuria. Primary systemic amyloidosis must be considered in the differential diagnosis of cranial neuropathy, especially when proteinuria is present.     

Polymyositis and cranial neuropathy

BACKGROUND: Polymyositis with cranial neuropathy has been rarely reported. CASE REPORTS: We describe here three cases of polymyositis with trigeminal or facial neuropathy. Patients had muscular weakness, myalgia, rhabdomyolysis, endomysial infiltration with necrosis and regeneration at biopsy of muscle and, for two of them, a myopathic pattern at electromyogram. Two patients had also a Sj?gren's syndrome and anti-nuclear antibodies. Anti-JO1 antibodies were presents in only one case. The outcome for one patient was good with corticosteroids alone. One other improved with the adjunction of immunoglobulin. The third one had a macrocheilia, a facial diplegia, antibodies against voltage-gated potassium channels and a neuromyotonia secondary to a paraneoplastic syndrome. He died after one year despite a treatment by corticosteroids and immunoglobulin. Patients fulfilled the diagnosis of polymyositis according to clinical, electromyographic, biological and histopathologic criteria. For the two patients with Sj?gren's syndrome, the question of a primitive or a secondary Sj?gren's syndrome remains unknown. CONCLUSION: The occurrence of a cranial neuropathy in polymyositis should make us looking for an association with paraneoplastic syndrome or connective tissue disease.     

IgM Demyelinative neuropathy with amyloidosis and biclonal gammopathy

A 59-year-old man developed a sensorimotor neuropathy of the upper and lower limbs, associated with a biclonal gammopathy, within the space of a few months. Each of two paraproteins was coupled with a distinct IgM kappa IgG lambda light chain. Examination of a nerve biopsy specimen by electron microscopy revealed a demyelinative process with a widening of the interlaminar space in the myelin sheath, as well as deposits of amyloid substance between nerve fibers. Direct immunofluorescence revealed the presence of IgM and of the kappa light chain in certain Schwann cells, while the lambda IgG was fixed to the amyloid deposits. Immunoperosidase histochemistry showed a positive reaction in normal human nerve tissue to the immune serum IgM and kappa light chain. The findings suggest that the widening of the interlaminar space of the diseased myelin corresponds to an active fixation of immunoglobulin on the sheath of the Schwann cell. The presence of two light chains in this patient's gammopathy caused a dual pathology: the kappa chain, a demyelinative neuropathy, and the lambda chain, a primary amyloidosis, with deposits in the peripheral nerve and in the kidney.     

Pupil abnormality in amyloidosis with autonomic neuropathy

Darkness pupil diameters, light reflexes, and redilatation times have been recorded with infrared TV pupillometry in 12 consecutive patients with systemic amyloidosis associated with sensory motor and autonomic neuropathy. Nine of the patients had AL amyloidosis, two had familial amyloidosis associated with a transthyretin abnormality, and one was untyped. The pupils were abnormal in all 12 patients. On the basis of redilatation lag without pupillotonia, six patients had bilateral Horner's syndrome and in one of them amyloid deposits were found in a sympathetic ganglion and in the attached sympathetic chain obtained at necropsy. Four patients had bilateral tonic pupils with light-near dissociation and two had abnormally small pupils with reduced light reactions which could not be characterised. It seems that in patients with systemic amyloidosis generalised autonomic neuropathy is strongly associated with pupil abnormality as shown by tonic reactions with light-near dissociation, by redilatation lag, or by reduced size in darkness.     

显微血管减压术与颅神经疾病

颅神经疾病主要包括特发性偏侧面肌痉挛(hemifacial spasm, HFS)、原发性三叉神经痛(trigeminal neuralgia, TN)、原发性舌咽神经痛(glossopharyngeal neuralgia, GN)、致残性位置性眩晕(disabling positional vertigo, DPV)、单侧致残性耳鸣等,不仅给患者带来巨大痛苦,病情严重时甚至丧失正常生活和工作能力.     

Lyme borreliosis and cranial neuropathy

In a 2-year study of 37 consecutive adult patients with isolated cranial nerve affection of primarily unknown origin, seen at a neurological clinic, borrelia infection was identified as the cause in six cases. Four patients had a peripheral facial palsy and two had a sixth nerve palsy. The patients with borreliosis had headaches or other pain considerably more often than patients with other or unknown aetiology. All six patients had accompanying symptoms and/or signs; in five cases these were obvious, and pointed to a borrelia infection. This study indicates that a careful history to elicit other symptoms of Lyme borreliosis will usually identify the cranial nerve affections with borrelial aetiology in adult patients. To verify the diagnosis, both serum and CSF analysis should be performed. Routine testing for borrelia serology in all patients with cranial neuropathy is generally not indicated.     

Isolated cranial neuropathy associated with anti-glycolipid antibodies

We describe seven patients with isolated cranial neuropathy in whom serum anti-glycolipid antibodies were detected. Trigeminal sensory neuropathy was found in four patients, who had exhibited symptoms for 2 months to 4 years. The other three patients showed facial nerve palsy with or without ophthalmoparesis. Temporal profile analysis of anti-glycolipid antibodies revealed that titers of anti-glycolipid IgM antibodies against GM2 and LM1 gradually decreased in patients having chronic trigeminal sensory neuropathy. In patients with acute trigeminal sensory neuropathy, elevation of anti-LM1 antibody titers continued over 12 months although anti-GalNAc-GD1a antibody disappeared. On the other hand, titers of anti-glycolipid antibodies rapidly decreased in patients with acute facial nerve palsy with or without ophthalmoparesis. We conclude that anti-glycolipid antibodies may play an important role in the development of isolated cranial neuropathy in some patients.     

Familial oculopharyngeal muscular dystrophy with distal spread

An Italian male aged 50 years with oculopharyngeal muscular dystrophy is reported. Eleven of his relatives, over a period of three generations, had ptosis, dysphagia, nasal voice and difficulty in walking. The distribution of muscle weakness in the propositus and in one of his sisters was proximal in the upper, but distal in the lower limbs, confirming the existence of a relationship between oculopharyngeal dystrophy and distal myopathy. The first muscle biopsy appeared normal except for some round-cell collections, whereas the second one, 5 years later, showed marked dystrophic changes. Some patients with oculopharyngeal dystrophy may apparently pass through a secondary muscular inflammatory stage.     

Familial adult-onset muscular dystrophy with leukoencephalopathy.

We report on 3 siblings with an adult-onset, predominantly distal muscle weakness. In the female index patient this was associated with epilepsy and a progressive spastic ataxic gait, while the 2 other siblings had no appreciable clinical nervous system involvement. Additional investigations revealed muscular dystrophy and leukoencephalopathy in all 3 siblings. We conclude that this familial adult-onset muscular dystrophy associated with leukoencephalopathy represents a newly recognized autosomal recessive syndrome.     

Familial multiple symmetric lipomatosis with peripheral neuropathy

We describe coexisting peripheral neuropathy and multiple symmetric lipomatosis in 4 of 7 siblings. The absence of either condition in 3 other generations of this family suggests autosomal recessive inheritance. None of the affected siblings were alcoholic, a factor some have proposed to explain the frequent occurrence of peripheral neuropathy in sporadic multiple symmetric lipomatosis. Serum lipid studies, including apoprotein A levels, were normal. Sural nerve biopsy from 1 patient showed nerve fiber loss, predominantly affecting large myelinated fibers. The relationship between myelin sheath thickness and axon diameter was normal, arguing that this neuropathy is not due to primary axonal atrophy.     

Familial extrapyramidal disease with peripheral neuropathy.

A family is presented in which 10 members over three generations developed a Parkinsonian syndrome. Two siblings had additional clinical and electrophysiological evidence of an associated peripheral neuropathy and sural nerve biopsy in one case revealed axonal loss. This is the third family reported in the literature in which an extrapyramidal syndrome is associated with neuropathy, but differs from earlier reports in that neuropathic involvement was due to axonal degeneration rather than segmental demyelination.     

Familial recurrent cranial nerve palsies

Family cases of recurrent cranial nerve palsies are seldom reported. This paper presents a family with recurrent facial and ocular nerve palsies in 2 brothers. Their father and his sister had Bell's palsies. Examinations provided no explanation. Six previous reports of families with recurrent cranial nerve palsies are summarized. The pedigrees speak in favour of an autosomal dominant mode of inheritance of predisposing factors. The pathogenetic mechanism might be vascular or autoimmune, but is still unknown.