Singh Chhaparwal Dhanda syndrome
Overview
Singh-Chhaparwal-Dhanda syndrome: A very rare syndrome characterized mainly by short stature, mental retardation, eye defects and a missing kneecap.
Symptoms
The list of signs and symptoms mentioned in various sources for Singh-Chhaparwal-Dhanda syndrome includes the 14 symptoms listed below: * Absent kneecap * Eye defects * Mental retardation * Short stature * Cataract * Delayed puberty * Vision loss * Dislocated eye lens * Weak eye muscles * Undescended testes * Abnormal tooth position * Nystagmus * Small penis * Delayed bone age Note that Singh-Chhaparwal-Dhanda syndrome symptoms usually refers to various symptoms known to a patient, but the phrase Singh-Chhaparwal-Dhanda syndrome signs may refer to those signs only noticable by a doctor.
Causes
* Brain stem infarction Brain stem infarction causes absent doll's eye sign with coma. It also causes limb paralysis, cranial nerve palsies (facial weakness, diplopia, blindness or visual field deficits, and nystagmus), bilateral cerebellar ataxia, variable sensory loss, a positive Babinski's reflex, decerebrate posture, and muscle flaccidity. * Brain stem tumor Absent doll's eye sign accompanies coma in a brain stem tumor. This sign may be preceded by hemiparesis, nystagmus, extraocular nerve palsies, facial pain or sensory loss, facial paralysis, a diminished corneal reflex, tinnitus, hearing loss, dysphagia, drooling, vertigo, dizziness, ataxia, and vomiting. * Central midbrain infarction Accompanying absent doll's eye sign are coma, Weber's syndrome (oculomotor palsy with contralateral hemiplegia), contralateral ataxic tremor, nystagmus, and pupillary abnormalities. * Pontine hemorrhage Absent doll's eye sign and coma develop within minutes with pontine hemorrhage, a life-threatening disorder. Other ominous signs — such as complete paralysis, decerebrate posture, a positive Babinski's reflex, and small, reactive pupils — may rapidly progress to death. * Posterior fossa hematoma A subdural hematoma at the posterior fossatypically causes absent doll's eye sign and coma. These signs may be preceded by characteristic signs and symptoms, such as a headache, vomiting, drowsiness, confusion, unequal pupils, dysphagia, cranial nerve palsies, a stiff neck, and cerebellar ataxia.
Diagnosis
After detecting an absent doll's eye sign, perform a neurologic examination. First, evaluate the patient's level of consciousness, using the Glasgow Coma Scale. Note decerebrate or decorticate posture. Examine the pupils for size, equality, and response to light. Check for signs of increased ICP — increased blood pressure, increasing pulse pressure, and bradycardia. After detecting an absent doll’s eye sign, perform a neurologic examination. First, evaluate the patient’s level of consciousness (LOC), using the Glasgow Coma Scale. Note decerebrate or decorticate posture. Examine the pupils for size, equality, and response to light. Check for signs of increased ICP—increased systolic blood pressure, widening pulse pressure, and bradycardia.