Lesch-Nyhan syndrome physical examination: Difference between revisions
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==Physical examination== | ==Physical examination== | ||
=== Appearance of the Patient === | === Appearance of the Patient === | ||
*[[Developmental delay]] | *If the patient presents in later stages, he may be wheel chair bound | ||
*[[Developmental delay]] or [[growth retardation]] | |||
*[[Mental retardation]] | |||
*Abnormal involuntary movements ([[choreoathetosis]]) | |||
*Tissue disfigurement | |||
*[[Short stature]] | |||
====Vital Signs==== | |||
*Within normal limits | |||
==== Abdomen ==== | |||
*[[Flank pain]] from [[nephrolithiasis]] | |||
==== Extremities ==== | |||
*[[Gouty arthritis]]: red, hot, swollen joints, [[Tophus|gouty tophi]] | |||
*Proximally located thumb and fifth finger [[clinodactyly]] | |||
==== Neurologic ==== | |||
*Impaired cognitive function | |||
*Delay in motor development | |||
*[[Seizures]] | |||
*[[Pyramidal tract]] symptoms: | |||
*[[Spasticity]]: Flexure contractures | |||
**[[Dystonia]] | |||
**[[Choreoathetosis]] | |||
**[[Opisthotonus]] | |||
**Severe [[dyslexia]] | |||
*[[Dysarthria]] | |||
*[[Extra-pyramidal tract]] symptoms: | |||
**[[Hyperreflexia]] | |||
**Ankle [[clonus]] | |||
*Compulsive behavior | |||
====Genitals==== | |||
*[[Testicular atrophy]] | |||
*[[Delayed puberty]] | |||
==== Other ==== | |||
*Orange colored grainy crystals in the diapers | |||
*Self-inflicted injuries: bite marks, scarring of lips and fingers | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
[[Category:Pediatrics]] | |||
[[Category:Endocrinology]] | |||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} |
Latest revision as of 19:10, 26 July 2016
Lesch-Nyhan syndrome Microchapters |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]
Overview
The features of the Lesch-Nyhan syndrome are mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips. Megaloblastic anemia has been found in some.
Physical examination
Appearance of the Patient
- If the patient presents in later stages, he may be wheel chair bound
- Developmental delay or growth retardation
- Mental retardation
- Abnormal involuntary movements (choreoathetosis)
- Tissue disfigurement
- Short stature
Vital Signs
- Within normal limits
Abdomen
Extremities
- Gouty arthritis: red, hot, swollen joints, gouty tophi
- Proximally located thumb and fifth finger clinodactyly
Neurologic
- Impaired cognitive function
- Delay in motor development
- Seizures
- Pyramidal tract symptoms:
- Spasticity: Flexure contractures
- Dysarthria
- Extra-pyramidal tract symptoms:
- Hyperreflexia
- Ankle clonus
- Compulsive behavior
Genitals
Other
- Orange colored grainy crystals in the diapers
- Self-inflicted injuries: bite marks, scarring of lips and fingers