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 language | Italian |
|---|---|
| Pages (from-to) | 297-301 |
| Number of pages | 5 |
| Journal | Rivista di Neurobiologia |
| Volume | 45 |
| Issue number | 3 |
| Publication status | Published - 1999 |
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ASJC Scopus subject areas
- Neuroscience(all)
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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 journal › Article
}
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 -