Tay - Sachs disease

Introduction

Tay-Sachs disease is a chromosomal disorder hereditary cause's severe side effect, both physical and mental. New born babies in their initial month after birth get affected; this disease seen first as manifested in the brain by the fat accumulation which prevents optimal function of the nerves. This hinders lipid deposition; hence, the locomotive function, prospect of expression, fundamental movements, and communication (Kaback, 2010). Unfortunately, there is no cure for this disease, and most children with Tay-Sachs die during the first five years.

Tay - Sachs disease

The Tay-Sachs disease is an uncommon disease in pediatric practice. In the childhood form "classic", the most common, patients have no significant history of pregnancy and childbirth. Between the second and third month usually appears the first sign of illness, an exaggerated startle response to noise extension of limbs, eyelid closure and opening or closing the mouth. This sign is constant and persistent, but rarely a cause for alarm or consultation, as in patients. In the initial evaluation, of the 6 children found normal pupils, lack of social smile and faces expressionless but Psycho visual connection and object tracking. In no case reported abnormal eye movements or suspected preexisting probably have impaired vision ophthalmologist advance. The MRC ocular sign detected as a result of the study protocol and neuropsychic impairment before visual disconnection observed between 10 and 13 months of age. In the second year, of life had seizures semiology varied and half of the patients had more than one type of crisis: generalized tonic-clonic (5 / 6) with infantile spasms (sixth), gelastic seizures (1 / 6) and complex partial (1 / 6) (Kivlin, 2005). The remaining patient showed only partial motor crisis hemiclonicas. In all observed generalized slowing EEG rhythms at baseline. Patient, who had infantile spasms, had only asynchronous frontal steep waves without a trace of hypsarrhythmia. Patients and, both with EEG polyspike-wave paroxysms and a tendency to slow paroxysmal voltage attenuation, had generalized tonic-clonic seizures, the patient with gelastic seizures and only partial motor crisis hemiclonicas patient. In, a patient found macrocephaly greater than SD above the mean. In the other, although the growth of the skull kept in appropriate values for sex and age observed crossing percentiles upward (ibid). The substance not considered toxic to the cells, but the physical presence interferes with intracellular functions and causes neuronal death and subsequent demyelization diffuse axonal degeneration and marked reactive gliosis, which contribute to increasing macrocephaly. Neuroimaging, carried out between 9 and 11 months of age, variations detected optical signal in thalami bilaterally and symmetrically in 100% of cases. In patients 1, 2 and 3, studied by CT, the finding bilateral thalamic hyper density consisted of homogeneous. The thalamic hyper density reported in previous work in the initial period of the disease. In children 3, 4, 5 and 6, studied by MRI, T1 sequence found in increased signal, in both thalami, bilateral thalamic hyper intensities (1HTB) (Kaback, 2010), while T2 showed such areas as low signal structures, thalamic hypo intensity Bilateral ...