Miotonia congenita, epilessia, schizofrenia: Un'insolita associazione

Translated title of the contribution: Congenital myotonia, epilepsy and schizophrenia. Case report

Marcello Romano, Carmelo Rodolico, Salvatore Cottone, Antonio Toscano, Luigi Pastore, Francesco Gioia, Alessandro Bilello, Antonio Francomano, Angelo Quartarone, Paolo Girlanda, Giuseppe Vita

Research output: Contribution to journalArticle

Abstract

The patient, a 24-years old man, an adoptive son without data about his relatives, showed, at the age of 8 months, difficulty in opening hands after grasp and a history of generalized seizures since he was 1-year old. At the age of 14 years diseappearance of epileptic attacks under therapy with phenobarbital and carbamazepine, and at the age of 15 years the patient showed a psychotic dissociative syndrome. In the hospital a diffuse muscular hypertrophy, myotonic phenomenon at the hands and absent tendon reflexes were present. Intellectual evaluation revealed a below average intelligence with loss of real contact and cognitive distorsion of mind. EEG was abnormal; CT brain scan was normal. Cerebral SPECT with 99mTc - HMPAO evidenced a reduced perfusion of the basal ganglia. Serum levels of CK were 297 IU/l (n.v. 25-200 IU/l). CNEMG showed myotonic discharges. Muscle biopsy revealed some atrophic fibers and an increased number of internal nuclei. In consideration of recent molecular studies concerning diseases related to dysfunction of the ionic channel we describe this case in which the occurrence of myotonia, epilepsy and schizophrenia may represent the expression of three associated disturbances with a possible common pathogenetic mechanism.

Original languageItalian
Pages (from-to)297-301
Number of pages5
JournalRivista di Neurobiologia
Volume45
Issue number3
Publication statusPublished - 1999

Fingerprint

Myotonia Congenita
Myotonia
Epilepsy
Schizophrenia
Hand
Technetium Tc 99m Exametazime
Stretch Reflex
Abnormal Reflexes
Carbamazepine
Hand Strength
Phenobarbital
Basal Ganglia
Single-Photon Emission-Computed Tomography
Nuclear Family
Intelligence
Ion Channels
Hypertrophy
Electroencephalography
Seizures
Perfusion

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Romano, M., Rodolico, C., Cottone, S., Toscano, A., Pastore, L., Gioia, F., ... Vita, G. (1999). Miotonia congenita, epilessia, schizofrenia: Un'insolita associazione. Rivista di Neurobiologia, 45(3), 297-301.

Miotonia congenita, epilessia, schizofrenia : Un'insolita associazione. / Romano, Marcello; Rodolico, Carmelo; Cottone, Salvatore; Toscano, Antonio; Pastore, Luigi; Gioia, Francesco; Bilello, Alessandro; Francomano, Antonio; Quartarone, Angelo; Girlanda, Paolo; Vita, Giuseppe.

In: Rivista di Neurobiologia, Vol. 45, No. 3, 1999, p. 297-301.

Research output: Contribution to journalArticle

Romano, M, Rodolico, C, Cottone, S, Toscano, A, Pastore, L, Gioia, F, Bilello, A, Francomano, A, Quartarone, A, Girlanda, P & Vita, G 1999, 'Miotonia congenita, epilessia, schizofrenia: Un'insolita associazione', Rivista di Neurobiologia, vol. 45, no. 3, pp. 297-301.
Romano M, Rodolico C, Cottone S, Toscano A, Pastore L, Gioia F et al. Miotonia congenita, epilessia, schizofrenia: Un'insolita associazione. Rivista di Neurobiologia. 1999;45(3):297-301.
Romano, Marcello ; Rodolico, Carmelo ; Cottone, Salvatore ; Toscano, Antonio ; Pastore, Luigi ; Gioia, Francesco ; Bilello, Alessandro ; Francomano, Antonio ; Quartarone, Angelo ; Girlanda, Paolo ; Vita, Giuseppe. / Miotonia congenita, epilessia, schizofrenia : Un'insolita associazione. In: Rivista di Neurobiologia. 1999 ; Vol. 45, No. 3. pp. 297-301.
@article{3fec717cea844fcbb55e57b3f2bab53c,
title = "Miotonia congenita, epilessia, schizofrenia: Un'insolita associazione",
abstract = "The patient, a 24-years old man, an adoptive son without data about his relatives, showed, at the age of 8 months, difficulty in opening hands after grasp and a history of generalized seizures since he was 1-year old. At the age of 14 years diseappearance of epileptic attacks under therapy with phenobarbital and carbamazepine, and at the age of 15 years the patient showed a psychotic dissociative syndrome. In the hospital a diffuse muscular hypertrophy, myotonic phenomenon at the hands and absent tendon reflexes were present. Intellectual evaluation revealed a below average intelligence with loss of real contact and cognitive distorsion of mind. EEG was abnormal; CT brain scan was normal. Cerebral SPECT with 99mTc - HMPAO evidenced a reduced perfusion of the basal ganglia. Serum levels of CK were 297 IU/l (n.v. 25-200 IU/l). CNEMG showed myotonic discharges. Muscle biopsy revealed some atrophic fibers and an increased number of internal nuclei. In consideration of recent molecular studies concerning diseases related to dysfunction of the ionic channel we describe this case in which the occurrence of myotonia, epilepsy and schizophrenia may represent the expression of three associated disturbances with a possible common pathogenetic mechanism.",
keywords = "Epilepsy, Myotonia, Schizophrenia",
author = "Marcello Romano and Carmelo Rodolico and Salvatore Cottone and Antonio Toscano and Luigi Pastore and Francesco Gioia and Alessandro Bilello and Antonio Francomano and Angelo Quartarone and Paolo Girlanda and Giuseppe Vita",
year = "1999",
language = "Italian",
volume = "45",
pages = "297--301",
journal = "Rivista Italiana di Neurobiologia",
issn = "0035-6336",
publisher = "Editrice Pisani s.a.s.",
number = "3",

}

TY - JOUR

T1 - Miotonia congenita, epilessia, schizofrenia

T2 - Un'insolita associazione

AU - Romano, Marcello

AU - Rodolico, Carmelo

AU - Cottone, Salvatore

AU - Toscano, Antonio

AU - Pastore, Luigi

AU - Gioia, Francesco

AU - Bilello, Alessandro

AU - Francomano, Antonio

AU - Quartarone, Angelo

AU - Girlanda, Paolo

AU - Vita, Giuseppe

PY - 1999

Y1 - 1999

N2 - The patient, a 24-years old man, an adoptive son without data about his relatives, showed, at the age of 8 months, difficulty in opening hands after grasp and a history of generalized seizures since he was 1-year old. At the age of 14 years diseappearance of epileptic attacks under therapy with phenobarbital and carbamazepine, and at the age of 15 years the patient showed a psychotic dissociative syndrome. In the hospital a diffuse muscular hypertrophy, myotonic phenomenon at the hands and absent tendon reflexes were present. Intellectual evaluation revealed a below average intelligence with loss of real contact and cognitive distorsion of mind. EEG was abnormal; CT brain scan was normal. Cerebral SPECT with 99mTc - HMPAO evidenced a reduced perfusion of the basal ganglia. Serum levels of CK were 297 IU/l (n.v. 25-200 IU/l). CNEMG showed myotonic discharges. Muscle biopsy revealed some atrophic fibers and an increased number of internal nuclei. In consideration of recent molecular studies concerning diseases related to dysfunction of the ionic channel we describe this case in which the occurrence of myotonia, epilepsy and schizophrenia may represent the expression of three associated disturbances with a possible common pathogenetic mechanism.

AB - The patient, a 24-years old man, an adoptive son without data about his relatives, showed, at the age of 8 months, difficulty in opening hands after grasp and a history of generalized seizures since he was 1-year old. At the age of 14 years diseappearance of epileptic attacks under therapy with phenobarbital and carbamazepine, and at the age of 15 years the patient showed a psychotic dissociative syndrome. In the hospital a diffuse muscular hypertrophy, myotonic phenomenon at the hands and absent tendon reflexes were present. Intellectual evaluation revealed a below average intelligence with loss of real contact and cognitive distorsion of mind. EEG was abnormal; CT brain scan was normal. Cerebral SPECT with 99mTc - HMPAO evidenced a reduced perfusion of the basal ganglia. Serum levels of CK were 297 IU/l (n.v. 25-200 IU/l). CNEMG showed myotonic discharges. Muscle biopsy revealed some atrophic fibers and an increased number of internal nuclei. In consideration of recent molecular studies concerning diseases related to dysfunction of the ionic channel we describe this case in which the occurrence of myotonia, epilepsy and schizophrenia may represent the expression of three associated disturbances with a possible common pathogenetic mechanism.

KW - Epilepsy

KW - Myotonia

KW - Schizophrenia

UR - http://www.scopus.com/inward/record.url?scp=0033369839&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033369839&partnerID=8YFLogxK

M3 - Articolo

AN - SCOPUS:0033369839

VL - 45

SP - 297

EP - 301

JO - Rivista Italiana di Neurobiologia

JF - Rivista Italiana di Neurobiologia

SN - 0035-6336

IS - 3

ER -