A 64-year-old woman with night paroxysmal episodes is described. Her symptoms began 9 months ago with attacks of bizarre movement, which were always present in the second part of the night. She had ...no attacks during the daytime. Her husband reported confusion and disorientation followed by long periods of unresponsiveness. The patient underwent a night polysomnography recording. Around 4 o'clock in the morning bizarre movements with stereotypic behaviour appeared. She was rolling her head from side to side, moaning, and stretching her limbs. These periods first lasted for minutes, and were constantly repeated during the night. EEG findings suggested metabolic encephalopathy. At that time finger prick test revealed a profound hypoglycaemia (1.2 mmol/l), high insulin (200 pmol/l), and C-peptide (6.63 nmol/l). Ultrasonography and MRI confirmed the insulinoma in the head of the pancreas. To our knowledge our case is the first patient with insulinoma attacks only during sleep time.
Abstract Objective To define auditory nerve and cochlear functions in two families with autosomal dominant axonal Charcot-Marie-Tooth (CMT). Methods Affected members in two families with different ...point mutations of NF - L gene were screened with auditory brainstem responses (ABRs). Those with abnormal ABRs were further investigated with clinical, neurophysiological and audiological procedures. The point mutations of NF - L gene involved were Glu397Lys in 8 affected members of the family with AN, and Pro22Ser in 9 affected members of the family without AN. Results ABRs and stapedial muscle reflexes were absent or abnormal in affected members of only one family consistent with auditory neuropathy (AN). In them, audiograms, otoacoustic emissions, and speech comprehension were normal. Absent or abnormal ABRs were consistent with slowing of conduction along auditory nerve and/or brainstem auditory pathway. Wave I when present was of normal latency. Conclusions Auditory nerve involvement in the presence of normal cochlear outer hair cell activity is asymptomatic in one of two families with CMT disorder with different point mutations of the NF - L gene. The nerve disorder is consistent with altered synchrony and slowed conduction. Significance The absence of “deafness” may reflect the ability of central mechanisms to compensate for the slowly developing auditory nerve abnormalities.
The aim of this work was to assess the hearing impairment in patients with hereditary motor and sensory neuropathy (HMSN). Elevation of pure tone thresholds in the presence of preserved inner ear ...function as suggested by cochlear microphonics (CM), absent or markedly abnormal brainstem auditory evoked potentials (BAEP), and elevation of speech perception out of proportion to the pure tone loss were found in the patients. From 28 members of a Gypsy family, we examined two siblings aged 31 and 30 years and their nephew aged 20 years, all suffering from HMSN that was associated with auditory neuropathy. All three affected members with difficulty of understanding speech had following investigations: pure tone and speech audiograms, BAEP, cochlear microphonics, and nerve conduction studies (NCV). Results: the older two siblings had a flat 80 dB audiogram, whereas the younger one has flat 20 dB audiogram on the Lt. ear and 30 dB audiogram on the Rt. ear. All had no speech comprehension and no BAEP. Two patients had preserved cochlear microphonics on one ear. Peripheral nerves were electrically not elicitable, however, at the beginning of the disease nerve conduction was slow. Conclusion: in all three affected members with distinct clinical picture of HMSN their hearing impairment was proved to be due to severe auditory neuropathy in the presence of preserved inner ear function.
Members of a Roma (Gypsy) family with hereditary motor and sensory peripheral neuropathy (HMSN) and concomitant auditory and vestibular cranial neuropathies were identified in Kocevje, Slovenia. The ...illness begins in childhood with a severe and progressive motor disability and the deafness is delayed until the second decade. There are no symptoms of vestibular dysfunction. The family structure is consistent with an autosomal recessive pattern of inheritance and the genetic locus for the disorder is linked to the same region of chromosome 8q24 as other Roma families with HMSN and deafness from Lom, Bulgaria (HMSN‐Lom). The present study shows that the deafness is caused by a neuropathy of the auditory nerve with preserved measures of cochlear outer hair cell function (otoacoustic emissions and cochlear microphonics) but absent neural components of auditory brainstem potentials. The hearing loss affects speech comprehension out of proportion to the pure tone loss. Vestibular testing showed absence of caloric responses. Physiological and neuropathological studies of peripheral nerves were compatible with the nerve disorder contemporaneously affecting Schwann cells and axons resulting in both slowed nerve conduction and axonal loss. Genetic linkage studies suggest a refinement of the 8q24 critical region containing the HMSN‐Lom locus that affects peripheral motor and sensory nerves as well as the cranial auditory and vestibular nerves. Ann Neurol 1999;46:36–44
Progressive encephalopathy, developmental delay, microcephaly, electroencephalogram (EEG) and computed tomographic (CT) scan abnormalities have been reported in 80% of children with chronic renal ...failure (CRF) in infancy. Malnutrition, aluminium intoxication and psychosocial deprivation are proposed as causes. In 15 children with CRF from infancy we evaluated the effect of no aluminium salts and early vigorous nutritional and psychosocial support, in addition to the standard therapy, on neurological development. Six patients underwent dialysis (2 at birth) and 3 received transplants. None of our patients were given aluminium therapy. The nutritional status of the patients in the first 2 years of life was assessed with the waterlow classification. At the end of the follow-up period (mean 50 months range 14-148 months), patients underwent neurodevelopmental assessment, head CT scan, EEG, nerve conduction velocity (NCV) and auditory brain stem evoked response (ABER). None of our patients developed progressive encephalopathy or recurrent seizures. All have a normal neurological examination apart from hypotonia. Microcephaly was present in 5 patients. There was a good correlation between malnutrition in the first 2 years of life and microcephaly. Developmental delay was present in 3 patients; all 3 were microcephalic. There was evidence of brain atrophy on CT scan in only 3 patients. EEG was abnormal in 6 patients, but only severe in 1 patient. Only 1 patient had diminished NCV; all patients had a normal ABER. We conclude that a policy of no oral aluminium therapy and early nutritional support leads to better neurological outcome in children with CRF from infancy.
Hereditary motor and sensory neuropathy type Lom, initially identified in Roma (Gypsy) families from Bulgaria, has been mapped to 8q24. Further refined mapping of the region has been undertaken on ...DNA from patients diagnosed across Europe. The refined map consists of 25 microsatellite markers over approximately 3 cM. In this collaborative study we have identified a number of historical recombinations resulting from the spread of the hereditary motor and sensory neuropathy type Lom gene through Europe with the migration and isolation of Gypsy groups. Recombination mapping and the minimal region of homozygosity reduced the original 3 cM hereditary motor and sensory neuropathy type Lom region to a critical interval of about 200 kb.
The pronator reflex has been used clinically and electrophysiologically to evaluate the sixth and seventh cervical roots (C-6, C-7). This has been proven to be the result of stretching the pronator ...teres muscle. We examined 25 healthy individuals with surface electromyogram to establish electrophysiologically the reproducibility and reliability of this reflex, in addition to finding the 95% confidence interval (C.I.) for the latency for both males and females and to correlate it with the arm length. Standard procedure was used for all people. To elicit the pronator teres reflex, the volar report of the distal radius was struck by the hammer with the forearm in neutral position and the elbow flexed at 90 degrees. The response was pronation of the forearm. A reproducible diphasic response was found in all individuals. The mean latency was 15.9 (+/-1.3) ms with the 95% C.I. 16.8 for females and 17.4 (+/- 1.4) ms with the 95% C.I. 18.7 for males. The data were collected to be used for further evaluation of C-6, C-7 radiculopathy.
Studies in the literature have demonstrated a gender effect on sensory nerve action potential (SNAP) amplitude for the median and ulnar nerves by use of the antidromic method of recording. The ...objective of this study was to determine if performing orthodromic sensory nerve stimulation eliminates the gender bias by removing the finger circumference as a variable.
Fifty-five healthy subjects participated in the study. The mean age of the subjects was 37.8 +/- 5.9 yr and 35.3 +/- 5.9 yr for men and women, respectively. Orthodromic sensory nerve conduction studies were performed for the median and ulnar nerves measuring the SNAP amplitude by use of standard electrophysiologic technique.
The mean finger circumference of the third digit was 6.5 +/- 0.58 cm for men and 5.9 +/- 0.47 cm for women, and for the fifth digit, it was 5.6 +/- 0.41 cm for men and 5.3 +/- 0.37 cm for women. The median SNAP amplitude and their percentiles of 2.5 and 97.5 for the median nerve were 30.0 microV for men and 28.0 microV for women. For the ulnar nerve, they were 16.5 microV for men and 16.0 microV for women.
The study confirmed that orthodromic sensory nerve stimulation did not have any significant effect on SNAP amplitude between men and women.
The aim of this work was to assess the he ' g impairment in patients with hereditary motor and sensory neuropathy (HMSN). Elevation of pure tone thresholds in the presence of preserved inner ear ...function as suggested by cochlear microphonics (CM), absent or markedly abnormal brainstem auditory evoked potentials (BAEP), and elevation of speech perception out of proportion to the pure tone loss were found in the patients. From 28 members of a Gypsy family, we examined two siblings aged 31 and 30 years and their nephew aged 20 years, all suffering from HMSN that was associated with auditory neuropathy. All three affected members with difficulty of understanding speech had following investigations: pure tone and speech audiograms, BAEP, cochlear microphonics, and nerve conduction studies (NCV).
the older two siblings had a flat 80 dB audiogram, whereas the younger one has flat 20 dB audiogram on the Lt. ear and 30 dB audiogram on the Rt. ear. All had no speech comprehension and no BAEP. Two patients had preserved cochlear microphonics on one ear. Peripheral nerves were electrically not elicitable, however, at the beginning of the disease nerve conduction was slow.
in all three affected members with distinct clinical picture of HMSN their hearing impairment was proved to be due to severe auditory neuropathy in the presence of preserved inner ear function.
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