Flynn Aird syndrome
Overview
Flynn-Aird syndrome: A rare inherited disorder where neurological degeneration causes symptoms such as dementia, ataxia, eye problems, skin disorders and muscle wasting.
Symptoms
* Blindness * Cataracts * Progressive loss of vision * Nearsightedness * Dental caries
Causes
Cerebellar abscess. Cerebellar abscess commonly causes limb ataxia on the same side as the lesion as well as gait and truncal ataxia. Typically, the initial symptom is a headache localized behind the ear or in the occipital region, followed by oculomotor palsy, fever, vomiting, an altered LOC, and coma. ❑ Cerebellar hemorrhage. With cerebellar hemorrhage, a life-threatening disorder, ataxia is usually acute but transient. Unilateral or bilateral ataxia affects the trunk, gait, or limbs. The patient initially experiences repeated vomiting, occipital headache, vertigo, oculomotor palsy, dysphagia, and dysarthria. Later signs, such as a decreased LOC or coma, signal impending herniation. ❑ Creutzfeldt-Jakob disease. Creutz-feldt-Jakob disease is a rapidly progressive dementia accompanied by neurologic signs and symptoms, such as myoclonic jerking, ataxia, aphasia, visual disturbances, and paralysis. It generally affects adults ages 40 to 65. ❑ Diabetic neuropathy. Peripheral nerve damage due to diabetes mellitus may cause sensory ataxia, extremity pain, slight leg weakness, skin changes, and bowel and bladder dysfunction. ❑ Diphtheria. Within 4 to 8 weeks of the onset of symptoms, a life-threatening neuropathy can produce sensory ataxia. Diphtheria can be accompanied by fever, paresthesia, and paralysis of the limbs and, sometimes, the respiratory muscles. ❑ Encephalomyelitis. Encephalomyelitis a complication of measles, smallpox, chickenpox, or rubella or of rabies or smallpox vaccination that may damage cerebrospinal white matter. Rarely, it’s accompanied by cerebellar ataxia. Other signs and symptoms include headache, fever, vomiting, an altered LOC, paralysis, seizures, oculomotor palsy, and pupillary changes. ❑ Friedreich’s ataxia. A progressive familial disorder, Friedreich’s ataxia affects the spinal cord and cerebellum. It causes gait ataxia, followed by truncal, limb, and speech ataxia. Other signs and symptoms include pes cavus, kyphoscoliosis, cranial nerve palsy, and motor and sensory deficits. A positive Babinski’s reflex may appear. ❑ Guillain-Barré syndrome. Peripheral nerve involvement usually follows a mild viral infection, rarely leading to sensory ataxia. Guillain-Barré syndrome also causes ascending paralysis and possibly respiratory distress. ❑ Hepatocerebral degeneration. Patients who survive hepatic coma are occasionally left with residual neurologic defects, including mild cerebellar ataxia with a wide-based, unsteady gait. Ataxia may be accompanied by an altered LOC, dysarthria, rhythmic arm tremors, and choreoathetosis of the face, neck, and shoulders. ❑ Multiple sclerosis (MS). Nystagmus and cerebellar ataxia commonly occur in MS, but they aren’t always accompanied by limb weakness and spasticity. Speech ataxia (especially scanning) may occur as well as sensory ataxia from spinal cord involvement. During remissions, ataxia may subside or may even disappear. During exacerbations, it may reappear, worsen, or even become permanent. MS also causes optic neuritis, optic atrophy, numbness and weakness, diplopia, dizziness, and bladder dysfunction. ❑ Olivopontocerebellar atrophy. Olivopontocerebellar atrophy produces gait ataxia and, later, limb and speech ataxia. Rarely, it produces an intention tremor. It’s accompanied by choreiform movements, dysphagia, and loss of sphincter tone. ❑ Poisoning. Chronic arsenic poisoning may cause sensory ataxia, along with headache, seizures, an altered LOC, motor deficits, and muscle aching. Chronic mercury poisoning causes gait and limb ataxia, principally of the arms. It also causes tremors of the extremities, tongue, and lips; mental confusion; mood changes; and dysarthria. ❑ Polyneuropathy. Carcinomatous and myelomatous polyneuropathy may occur before detection of the primary tumor in cancer, multiple myeloma, or Hodgkin’s disease. Signs and symptoms include ataxia, severe motor weakness, muscle atrophy, and sensory loss in the limbs. Pain and skin changes may also occur. ❑ Porphyria. Porphyria affects the sensory and, more frequently, the motor nerves, possibly leading to ataxia. It also causes abdominal pain, mental disturbances, vomiting, headache, focal neurologic defects, an altered LOC, generalized seizures, and skin lesions. ❑ Posterior fossa tumor. Gait, truncal, or limb ataxia is an early sign and may worsen as the tumor enlarges. It’s accompanied by vomiting, headache, papilledema, vertigo, oculomotor palsy, a decreased LOC, and motor and sensory impairments on the same side as the lesion. ❑ Spinocerebellar ataxia. With spinocerebellar ataxia, the patient may initially experience fatigue, followed by stiff-legged gait ataxia. Eventually, limb ataxia, dysarthria, static tremor, nystagmus, cramps, paresthesia, and sensory deficits occur. ❑ Stroke. In stroke, occlusions in the vertebrobasilar arteries halt blood flow to cause infarction in the medulla, pons, or cerebellum that may lead to ataxia. Ataxia may occur at the onset of stroke and remain as a residual deficit. Worsening ataxia during the acute phase may indicate extension of the stroke or severe swelling. Ataxia may be accompanied by unilateral or bilateral motor weakness, a possible altered LOC, sensory loss, vertigo, nausea, vomiting, oculomotor palsy, and dysphagia. ❑ Wernicke’s disease.The result of thiamine deficiency, Wernicke’s disease produces gait ataxia and, rarely, intention tremor or speech ataxia. With severe ataxia, the patient may be unable to stand or walk. Ataxia decreases with thiamine therapy. Associated signs and symptoms include nystagmus, diplopia, ocular palsies, confusion, tachycardia, exertional dyspnea, and orthostatic hypotension.