[Progressive myoclonic epilepsy type Lafora]. 2001

R Chemaly, and A Checrallah, and V Trak-Smayra, and K El-Kallab, and E Chemaly
Service de Neurologie, Hôtel-Dieu de France, Beyrouth, Liban.

Lafora's disease is a form of progressive myoclonic epilepsy characterized by seizures, myoclonus and dementia. We present the case of a 12-year-old girl who is complaining of epilepsy and myoclonic jerks starting a year ago, with deterioration of school performance, and abnormal EEG. The axillary skin biopsy showed PAS-positive inclusions in the cells of sweat glands, typical of Lafora's disease.

UI MeSH Term Description Entries
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D004569 Electroencephalography Recording of electric currents developed in the brain by means of electrodes applied to the scalp, to the surface of the brain, or placed within the substance of the brain. EEG,Electroencephalogram,Electroencephalograms
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001365 Axilla Area of the human body underneath the SHOULDER JOINT, also known as the armpit or underarm. Armpit,Underarm
D012867 Skin The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
D020192 Lafora Disease A form of stimulus sensitive MYOCLONIC EPILEPSY inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110). Epilepsy, Progressive Myoclonic, Lafora,Progressive Myoclonic Epilepsy, Lafora Type,Epilepsy Progressive Myoclonic 2,Epilepsy, Progressive Myoclonic 2A,Lafora Body Disease,Lafora Body Disease, Late Onset,Lafora Body Disorder,Lafora Progressive Myoclonic Epilepsy,Lafora Progressive Myoclonus Epilepsy,Lafora Type Progressive Myoclonic Epilepsy,Lafora-Body Disease, Late Onset,Late Onset Lafora Body Disease,Myoclonic Epilepsy of Lafora,Progressive Myoclonic Epilepsy Type 2,Progressive Myoclonic Epilepsy, Lafora,Progressive Myoclonus Epilepsy, Lafora Type,Lafora Myoclonic Epilepsy

Related Publications

R Chemaly, and A Checrallah, and V Trak-Smayra, and K El-Kallab, and E Chemaly
January 1986, European archives of psychiatry and neurological sciences,
R Chemaly, and A Checrallah, and V Trak-Smayra, and K El-Kallab, and E Chemaly
January 2016, The application of clinical genetics,
R Chemaly, and A Checrallah, and V Trak-Smayra, and K El-Kallab, and E Chemaly
December 2020, BMJ case reports,
R Chemaly, and A Checrallah, and V Trak-Smayra, and K El-Kallab, and E Chemaly
October 1961, Seishin shinkeigaku zasshi = Psychiatria et neurologia Japonica,
R Chemaly, and A Checrallah, and V Trak-Smayra, and K El-Kallab, and E Chemaly
April 2016, Neurology,
R Chemaly, and A Checrallah, and V Trak-Smayra, and K El-Kallab, and E Chemaly
September 2015, Neurology,
R Chemaly, and A Checrallah, and V Trak-Smayra, and K El-Kallab, and E Chemaly
January 2013, Epilepsy & behavior case reports,
R Chemaly, and A Checrallah, and V Trak-Smayra, and K El-Kallab, and E Chemaly
January 2018, Journal of pediatric neurosciences,
R Chemaly, and A Checrallah, and V Trak-Smayra, and K El-Kallab, and E Chemaly
April 1986, Der Nervenarzt,
R Chemaly, and A Checrallah, and V Trak-Smayra, and K El-Kallab, and E Chemaly
January 2015, The Journal of biological chemistry,
Copied contents to your clipboard!