Presentation
RESULTS Table 2 presents a summary of the clinical findings. Parents of case 1 were first cousin; consanguinity was denied in the remaining families. In all patients, it was present hypotonia, ataxia and developmental delay of variable intensity. [scielo.br]
Entire Body System
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Developmental Delay
In all patients, it was present hypotonia, ataxia and developmental delay of variable intensity. Mental retardation varied from profound to mild, and no respiratory abnormality was reported. [scielo.br]
Respiratoric
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Hyperpnea
Respiratory abnormalities, as hyperpnea and apnea, one of primary diagnostic criteria1,2, were not seen in our series. [scielo.br]
Eyes
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Abnormal Eye Movement
Early signs, as abnormal eye movements and respiratory abnormalities might suggest this possibility, but in most of cases, clinical features are non-specific. [scielo.br]
Neurologic
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Ataxia
In all patients, it was present hypotonia, ataxia and developmental delay of variable intensity. Mental retardation varied from profound to mild, and no respiratory abnormality was reported. [scielo.br]
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Nystagmus
JS is characterized by congenital ataxia, hypotonia, developmental delay, and at least one of the following features: neonatal respiratory disturbances and abnormal eye movements, including nystagmus and oculomotor apraxia2. [scielo.br]
Prognosis
JS prognosis at an early age is difficult to be determined. Recognition of molar tooth sign at brain MRI is an essential cue for the diagnosis of JS. [scielo.br]