Benign familial infantile epilepsy (BFIE) also known as benign familial infantile seizures (BFIS) or benign familial infantile convulsions (BFIC) is an epilepsy syndrome. Affected children who have no other health […]
List of articles in "Disease" category - Page 17
Postanesthetic shivering
Postanesthetic shivering (PAS) is shivering after anesthesia.The intensity of PAS may be graded using the scale described by Crossley and Mahajan: 0 = no shivering; 1 = no visible muscle […]
Cerebroretinal microangiopathy with calcifications and cysts
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a rare genetic disorder which affects multiple organs. Its hallmarks are widespread progressive calcifications cysts and abnormalities of the white matter of […]
Bing–Neel syndrome
Bing–Neel syndrome (BNS) is an extremely rare neurologic complication of Waldenström macroglobulinemia (WM). It was first described in 1936 by Jens Bing and Axel Valdemar Neel who observed a case […]
Floating-Harbor syndrome
Floating-Harbor syndrome also known as Pelletier-Leisti syndrome is a rare disease with fewer that 50 cases described in the literature. It is usually diagnosed in early childhood and is characterized […]
Early myoclonic encephalopathy
Early myoclonic encephalopathy (EME) is an epilepsy syndrome where myoclonic seizures develop in the neonatal period. After several months the seizure pattern may develop to infantile spasms (West syndrome). Various […]
Hyperglycerolemia
Hyperglycerolemia also referred to as glycerol kinase deficiency gk deficiency gkd and gk1 deficiency is a condition characterized by high levels of glycerides including monoglycerides diglycerides and triglycerides in the […]
Mirror movement disorder
Mirror movements are characterized by involuntary movements on one side of the body mirroring voluntary movements on the other. For example if someone wanted to pick up a pencil with […]
Genitopatellar syndrome
Genitopatellar syndrome is a rare disorder with characteristic craniofacial features congenital flexion contractures of the lower limbs absent or abnormal patellae urogenital anomalies and severe psychomotor retardation.In 2012 it was […]
Kangri cancer
Kangri cancer is a type of squamous-cell carcinoma of the skin. It is found only in Kashmir in the northwest of the Indian subcontinent. It occurs on the lower abdomen […]