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Nystagmus as seen in a case of ocular albinism. The cause of pathological nystagmus may be congenital, idiopathic, or secondary to a pre-existing neurological disorder.It also may be induced temporarily by disorientation (such as on roller coaster rides or when a person has been spinning in circles) or by some drugs (alcohol, lidocaine, and other central nervous system depressants, inhalant ...
Late onset congenital adrenal hyperplasia (LOCAH), also known as nonclassic congenital adrenal hyperplasia (NCCAH or NCAH), is a milder form of congenital adrenal hyperplasia (CAH), [1] a group of autosomal recessive disorders characterized by impaired cortisol synthesis that leads to variable degrees of postnatal androgen excess. [1] [2] [3] [4]
Noonan syndrome ( NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. [ 1] Facial features include widely spaced eyes, light-colored eyes, low-set ears, a short neck, and a small lower jaw. [ 1]
Beta blockers, implantable cardioverter defibrillator. Jervell and Lange-Nielsen syndrome ( JLNS) is a rare type of long QT syndrome associated with severe, bilateral sensorineural hearing loss. [ 2] Those with JLNS are at risk of abnormal heart rhythms called arrhythmias, which can lead to fainting, seizures, or sudden death.
A one-year-old girl with hydrocephalus showing "sunset eyes", before shunt surgery Hydrocephalus in a child with kleeblattschadel. Congenital hydrocephalus is present in the infant prior to birth, meaning the fetus developed hydrocephalus in utero during fetal development. The most common cause of congenital hydrocephalus is aqueductal stenosis ...
The superior semicircular canal dehiscence syndrome ( SSCDS) is a set of hearing and balance symptoms that a rare disease/disorder of the inner ear 's superior semicircular canal/duct induces. [ 3][ 4][ 5] The symptoms are caused by a thinning or complete absence of the part of the temporal bone overlying the superior semicircular canal of the ...
Vestibulocerebellar syndrome. Vestibulocerebellar syndrome, also known as vestibulocerebellar ataxia, is a progressive neurological disorder that causes a variety of medical problems. Initially symptoms present as periodic attacks of abnormal eye movements but may intensify to longer-lasting motor incapacity. The disorder has been localized to ...
Can be congenital, or acquired through trauma. When congenital, may be asymptomatic during childhood, but often manifests with headaches and cerebellar symptoms. Syndrome of occipitoatlantoaxial hypermobility is an acquired Chiari I malformation in patients with hereditary disorders of connective tissue. [ 40 ]