Clinical findings and electrodiagnostic testing in 108 consecutive cases of lumbosacral radiculopathy due to herniated disc.

STUDY AIM: This prospective study aim to examine whether clinical findings and electrodiagnostic testing (EDX) in patients with lumbosacral monoradiculopathy due to herniated disc (HD) differ as a function of root involvement level (L5 vs. S1) and HD zone (paramedian vs. intraforaminal). PATIENTS AND METHODS: All patients with L4, L5 or S1 monoradiculopathy were prospectively enrolled at four electromyography (EMG) labs over a 2-year period. The diagnosis was based on a congruence between patient history and MRI evidence of HD. We compared the sensitivities of clinical findings and EDX with respect to both root involvement level and HD zone. Multivariate logistic regression was performed in order to verify the association between abnormal EMG, clinical, and neuroradiological findings. RESULTS: One hundred and eight patients (mean age 47.7 years, 55% men) were consecutively enrolled. Sensory loss in the painful dermatome was the most frequent finding at physical examination (56% of cases). EMG was abnormal in at least one muscle supplied by femoral and sciatic nerves in 45 cases (42%). Inclusion of paraspinal muscles increased sensitivity to only 49% and that of proximal muscles was useless. Motor and sensory neurography was seldom abnormal. The most frequent motor neurographic abnormalities were a delay of F-wave minimum latency and decrease in the compound muscle action potential amplitude from extensor digitorum brevis and abductor hallucis in L5 and S1 radiculopathies, respectively. Sensory neurography was usually normal, the amplitude of sensory nerve action potential was seldom reduced when HD injured dorsal root ganglion or postganglionic root fibres. Multivariate logistic regression analysis showed that EMG abnormalities could be predicted by myotomal muscular weakness, abnormal deep reflexes, and paraesthesiae. The only clinical and electrophysiological differences with respect to root involvement level concerned deep reflexes and motor neurography of deep peroneal and tibial nerves. CONCLUSIONS: Only some EDX parameters are helpful for the diagnosis of lumbosacral radiculopathy. EMG was abnormal in less than 50% of cases and its abnormalities could be predicted by some clinical findings. However, neurography is useful as a tool for differential diagnosis between radiculopathy and more diffuse disorders of the peripheral nervous system (polyneuropathy, plexopathy).

Tarlov cysts: clinical evaluation of an italian cohort of patients.

Tarlov cyst syndrome is a rare, often asymptomatic disorder, characterised by isolated or multiple nerve-root cysts, usually occurring in the sacral spine, near the dorsal root ganglion, between the perineurium and endoneurium. The cysts may cause lower back pain, sacral radiculopathy, dyspareunia and urinary incontinence. There is little data in the literature on the relationship between Tarlov cysts and symptoms. Here, we report further details on the clinical impact of Tarlov cysts and investigate their pathogenesis and role as a cause of lumbosacral symptoms. We examined 157 patients with MRI evidence of symptomatic Tarlov cysts. Patients underwent complete neurological examination and were scored by the Hamilton Depression Rating Scale and the Visual Analogue Scale. Complete lower limb electromyography was performed in 32 patients. Clinical picture was correlated with size and number of cysts detected by MRI. Family history was recorded for signs of genetic inheritance. Almost all patients suffered perineal or lower back pain; 34 complained of sphincter and 46 of sexual disorders. Hamilton scores were abnormal, and family history was positive in a few cases. The scanty literature on Tarlov cysts mainly regards therapy by a neurosurgical approach. Our results provide new data on clinical impact and possible pathogenetic mechanisms.

Sensory nerve action potential amplitude is rarely reduced in lumbosacral radiculopathy due to herniated disc.

OBJECTIVE: Normal sensory nerve action potential (SNAP) amplitude is a classical neurographic rule whether damage is located proximal to the dorsal root ganglion (DRG) as in radiculopathy. The study's aim is to check SNAP reduction in patients with lumbosacral radiculopathy due to herniated disc (HD). METHODS: A total of 108 consecutive patients with lumbosacral monoradiculopathy were prospectively enrolled. The diagnosis was based on clinical findings and magnetic resonance imaging (MRI). Electromyography of muscles of L4-S1 myotomes, motor neurography of peroneal and tibial nerves and sensory neurography of saphenous, superficial peroneal and sural nerves were performed. Percentage decrease in SNAP amplitude of nerves between healthy and affected sides was calculated. RESULTS: Significant SNAP amplitude asymmetry was observed in superficial peroneal nerve in seven patients with L5 (12.1%) and in sural nerve in one patient with S1 (2.4%) radiculopathies. All these patients had foraminal HD. CONCLUSIONS: SNAP amplitude reduction of sensory nerve originating from damaged root is present only in 7% of radiculopathies and is likely due to DRG compression when located proximal to the spinal foramen or within the intraspinal canal. SIGNIFICANCE: Preservation of SNAP amplitude in radiculopathy remains an electrophysiological dogma with a little exception. If the reduction of SNAP amplitude affects other nerves, causes other than radiculopathy should be sought.

Peripheral neuropathy in late-onset Krabbe disease: report of three cases.

Late-onset Krabbe disease may have variable misleading clinical manifestations and be a puzzling problem for physicians. We report clinical and peripheral nerve studies of three patients with adult-onset Krabbe disease. Two cases had a predominantly spastic paraparesis; in one case, the symptoms mimicked a cerebrovascular disorder. Predominantly, demyelinating neuropathy was observed in one case and axonal neuropathy in two cases. In all cases, no typical intracytoplasmic inclusions were found. These observations suggest that peripheral neuropathy in adult-onset Krabbe disease has variable clinical and pathological characteristics, different from those described in the classic form.

Fulminant intravascular lymphomatosis mimicking acute haemorrhagic leukoencephalopathy.

BACKGROUND: Intravascular lymphomatosis (IVL) is a rare non-Hodgkin's lymphoma, usually of B cell lineage, characterized by massive angiotropic growth. The clinical presentation of IVL may include changes in mental status, non-localizing neurological deficits, seizures, fever of unknown origin and skin changes. Because of its rarity and the absence of specific diagnostic procedures except for cerebral biopsy, diagnosis is often postmortem. Brain MRI usually shows non-specific abnormalities. The purpose of this case report is to increase the knowledge of clinical and neuroimaging features of IVL by describing the findings observed in a 71-year-old patient. CASE REPORT: A 71-year-old male was admitted for right hemiparesis, acute cognitive impairment and febricula. A bone marrow biopsy resulted normal. He then developed a rapid progressive impairment of his mental status and left hemisoma motor seizures. Brain CT and MRI were interpreted as consistent with acute haemorrhagic leukoencephalopathy (AHLE), including multiple areas of restricted diffusion without gadolinium enhancement and a small focal area of gadolinium enhancement in the left temporal lobe white matter. The patient died within a few days and the autopsy led to the diagnosis of IVL. CONCLUSION: IVL may present with a variety of clinical signs and symptoms, including stroke and hemiparesis. IVL may mimic AHLE at brain MRI. However, the evidence of multiple areas of restricted diffusion without gadolinium enhancement and of a small area of gadolinium enhancement could have led to the correct diagnosis. IVL should be added to the differential diagnosis of AHLE at brain MRI.

Recurrent venous thrombosis including cerebral venous sinus thrombosis in a patient taking sildenafil for erectile dysfunction.

Acquired or hereditary prothrombotic risk factors may lead to cerebral venous sinus thrombosis (CVST), particularly when other predisposing factors coexist. A 57-year-old man experienced right leg deep venous thrombosis, severe thrombosis of the haemorrhoid plexus and CVST over a 12-month period during which he was taking sildenafil regularly twice a week. Sildenafil is a phosphodiesterase 5 (PDE5)-inhibitor used for erectile dysfunction (ED). A slight reduction in antithrombin III and free protein S levels was demonstrated. After suspension of sildenafil and six months on oral anticoagulants, clinical improvement was obtained. Recurrent venous thrombosis, including CVST, may complicate prolonged treatment with PDE5-inhibitors in subjects at risk. Periodic monitoring of clotting factors is recommended in these subjects.

Leukoencephalopathy as a rare complication of hepatitis C infection.

We report the case of a 64-year-old female patient with hepatitis C infection (HCV), who developed Sjögren's disease and sensory peripheral neuropathy. Clinical conditions worsened over three years with central nervous system involvement characterised by transient third cranial nerve paresis and mild selective impairment of attention and memory. Brain magnetic resonance imaging showed diffuse periventricular and lobar white matter hyperintensity. Laboratory findings included mixed cryoglobulinaemia (type II), cryocrit 1.47%, low serum levels of complement C4 and high levels of rheumatoid factor, HCV 1b genotype, high HCV mRNA levels in serum and cerebrospinal fluid. Skin biopsy showed evidence of vasculitis. After one year of plasmapheresis, immunosuppressant therapy and occasional corticosteroid treatment, neurological symptoms improved, skin biopsy changed and inflammation parameters normalised, suggesting that neurological symptoms might be related to the high levels of mixed cryoglobulins.

Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation.

The authors describe an infant with vanishing white matter disease with demyelinating peripheral neuropathy. Sequence analysis of EIF2B5 gene showed that the patient was a double heterozygote, with novel missense mutation CGA-->CAA in codon 269 of exon 6, resulting in the replacement of an arginine residue with glutamine.

Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage.

Progressive lung infiltration is a major cause of death in Niemann-Pick disease type A and B (NPA, NPB) and in the recently defined type C2. In type C1 (NPC1), the main manifestations are neurological. We report a patient with a classic, neurological, late infantile form of NPC1 disease, carrying the mutation P474L and the variant I642M in the NPC1 gene, who suffered recurrent respiratory manifestations. Bronchoalveolar lavage of a lung segment due to deteriorating respiratory condition revealed many foamy macrophages and was followed by an improvement in symptoms. Pneumopathy may therefore be considered a feature of NPC1 disease for which a partial bronchoalveolar lavage could be a useful treatment.

A Rett syndrome MECP2 mutation that causes mental retardation in men.

OBJECTIVE: To characterize the clinical features of a new type of X-linked mental retardation associated with MECP2 mutation in the index family. BACKGROUND: MECP2 mutations, originally described in a high percentage of patients with classic Rett syndrome, were considered lethal in men. The authors recently described a novel A140V MECP2 missense mutation in an Italian family with X-linked semidominant mental retardation. METHODS: The neurologic features of six symptomatic relatives (two women and four men) carrying the mutation were compiled. Laboratory investigations included EEG, EMG, conduction velocity (CV) of peripheral nerves, brain MRI, and (1)H-MR spectroscopy. RESULTS: Mental retardation and signs of neurologic impairment were present in all the affected members, but more pronounced in men. Neurologic features included slowly progressive spastic paraparesis/pyramidal signs (6/6), distal atrophy of the legs (6/6), ataxia (2/6), and postural tremor of the hands (3/6). Speech was preserved (6/6) but was dysarthric in the oldest brothers (2/6). Mild dysmorphic features were present in all cases. CONCLUSION: The neurologic disorder associated with A140V MECP2 mutation is not necessarily lethal in men, but they are more severely affected than women of the same family.

Cerebrotendinous xanthomatosis: 11-year treatment with chenodeoxycholic acid in five patients. An electrophysiological study.

We report the electrophysiological follow-up of five cerebrotendinous xanthomatosis patients treated for 11 years with chenodeoxycholic acid (CDCA). Nerve conduction velocity (NCV) was reduced in three cases. P100 latency of visual evoked potentials was delayed in four cases, interpeaks I-III and I-V of brainstem auditory evoked potentials (BAEPs) was increased in two and interpeak N13-20 of upper limb somatosensory evoked potentials (SEPs) was slowed in one. After 4 months of therapy with CDCA, NCV was normal and did not show any significant change during the 11 years of observation. Central motor conduction time of motor evoked potentials (MEPs) and N24-P40 interpeak latency of lower limb SEPs were increased in five and four cases, respectively, in spite of 2/3-year treatment with CDCA. Improvement of evoked potentials, especially of MEPs and SEPs, was slower and continued over the whole 11-year period. The size of xanthomas slightly decreased in some patients during treatment and the clinical manifestations stabilized, avoiding progressive worsening, but there was no significant improvement in neurological deficit. Two sisters of patients who never took CDCA showed progressive worsening of clinical manifestations, upper limb SEPs and BAEPs.

Genetic leukoencephalopathies with unknown metabolic pathogenesis.

The authors describe the principal forms of genetic leucodystrophies with unknown metabolic pathogenesis, indicating their main clinical signs and the new findings concerning the molecular genetic that are useful for the laboratory confirmation of the clinical suspicion.

Relationship between the self-administered Boston questionnaire and electrophysiological findings in follow-up of surgically-treated carpal tunnel syndrome.

A prospective study of electrophysiological examination and the Boston self-administered questionnaire (BQ) was carried out in patients with surgically-treated carpal tunnel syndrome. There were 104 hands in 93 patients (13 men and 80 women, mean age 56 years). The BQ was used to assess the severity of symptoms and function, and nerve conduction studies were done before surgical release by short incision at the palm, and at follow-ups 1 and 6 months after surgery. The BQ severity score improved or became normal in 98% of hands. The mean BQ scores and distal sensory and motor conduction velocities in the median nerve showed significant improvement at the 1 month follow-up. Further significant improvement was found at 6 months. There was no relationship between the improvements in BQ scores and the distal conduction in the median nerve. The degree of improvement in sensory and motor distal conduction velocities could be forecast from presurgical values, whereas the degree of improvement in the symptoms and the functional status after release could not be predicted from the presurgical BQ scores.

Neuronal intranuclear inclusion disease: neuropathologic study of a case.

We report neuropathological findings in a 22-year-old man affected with neuronal intranuclear inclusion disease. The inclusions affected to different extents the various structures of the central nervous system, being more numerous in cerebral cortex, inferior olives, hypoglossal and oculomotor nuclei. They ultrastructurally differed from Marinesco bodies. In the neurons of the substantia nigra, we occasionally observed intranuclear inclusions resembling the so-called rodlets of Roncoroni. We did not observe inclusions in the extraneuronal tissues. There was no apparent correlation between frequency of the inclusions and neuronal loss. Intranuclear inclusions were found in many morphologically normal neurons. We suggest that the intranuclear inclusions are the marker of a distinctive disorder, even though their role in neuronal degeneration remains to be clarified.

A syndrome of autosomal recessive pontocerebellar hypoplasia with white matter abnormalities and protracted course in two brothers.

We describe two brothers with an autosomal recessive syndrome characterized by neonatal onset, severe impairment of cognitive and motor functions, abnormal ocular movements and slight dystonic postures. Brain MR and CT scan showed a reduction in size of the cerebellum and to a lesser extent pons, accompanied by cerebral and cerebellar white matter abnormalities. These data suggest that they have a particular phenotype of pontocerebellar hypoplasia. Extensive laboratory investigation excluded known metabolic causes of pontocerebellar hypoplasia. We discuss the nosological status of pontocerebellar hypoplasia in relation to other early-onset pontocerebellar disorders.

An unusual type of primary cerebral hemihypotrophy with signs of dysfunctional neuronal migration.

We describe the neuropathological features of a complex brain malformation characterized by cerebral hemihypotrophy with ipsilateral lissencephaly, periventricular nodular heterotopia and macrogyria. The contralateral hemisphere showed only slight alterations of the gyral pattern and a limited periventricular gray matter heterotopia. The clinical picture of the patient, who died at the age of 15 years, consisted of severe oligophrenia, intractable seizures and left hemiparesis. We discuss the nosological status of this neuronal migration disorder of apparently unknown origin.

Autosomal recessive paraparesis with amyotrophy of hands and feet and white matter lesions.

We report two siblings with a hitherto undescribed syndrome of autosomal recessive spastic paraparesis accompanied by amyotrophy of hands and feet, and mental deterioration. Laboratory tests showed signs of lower motoneuron involvement in the four limbs, more accentuated in the distal regions. Brain MR showed bilateral symmetrical white matter lesions. We discuss the nosological status of this syndrome in relation to other similar forms of "complicated" spastic paraparesis.