Presentation
Jaw & Teeth
- Poor Oral Hygiene
• Other Weight loss Poor oral hygiene Aspiration pneumonia (late). The course of childhood-onset HD is a rapid downhill course [1] as is in our patient. [pediatricneurosciences.com]
Eyes
- Kayser-Fleischer Ring
Ophthalmic examination did not show Kayser Fleischer ring. CT scan head showed atrophy of caudate nucleus with prominence of frontal horn of lateral ventricle [Figure. 1]. [neurologyindia.com]
Both Kayser-fleischer ring and choreic movement were absent. Deep reflexes were brisk and Babinski’s sign was absent. Speech and muscle tone was normal. Blood routine and smear, liver function, iron and copper metabolism were of normal range. [bmcneurol.biomedcentral.com]
Neurologic
- Action Tremor
Patient had resting and action tremors. Investigation including haemogram, ESR, peripheral blood film, hepatic and renal function tests were normal. Ophthalmic examination did not show Kayser Fleischer ring. [neurologyindia.com]
- Fine Tremor
After 5 year of onset of these symptoms, she lost interest in family members and her friends. 6 months prior to admission she developed slowness of gait and initiation and performance of routine work along with fine tremors all over the body. [neurologyindia.com]
- Monotonous Speech
She had a slow and monotonous speech with diminished word output. Cogwheel rigidity was present in all four limbs with flexor planters. Glabellar tap, snout and pout reflexes were positive. Eye movements were also affected. [neurologyindia.com]
- Night Terrors
He had been inclined to obsessive hand washing in the last 5 years, and had night terrors occasionally which could not be recalled anything after sleeping. [bmcneurol.biomedcentral.com]
Workup
EEG
- Abnormal Spikes
Since the abnormal spikes appear during sleep, the symptoms may also appear during sleep undetectably. [bmcneurol.biomedcentral.com]
- Focal Spikes
Epileptiform discharges include generalized polyspike and slow-wave complex, spike and slow-wave complex, multifocal spikes and focal spikes. [e-jmd.org]
- Polyspike-and-Slow-Waves
Epileptiform discharges include generalized polyspike and slow-wave complex, spike and slow-wave complex, multifocal spikes and focal spikes. [e-jmd.org]
- Generalized Polyspikes
Epileptiform discharges include generalized polyspike and slow-wave complex, spike and slow-wave complex, multifocal spikes and focal spikes. [e-jmd.org]
- Spike-and-Slow-Waves
Epileptiform discharges include generalized polyspike and slow-wave complex, spike and slow-wave complex, multifocal spikes and focal spikes. [e-jmd.org]