Optiz syndrome: audiological, speech and neuropsychological assessment

Optiz Syndrome, also named Hypertelorism-Hypospadias Syndrome, is determined by a dominant autosomic genetic condition linked to X chromosome. This syndrome causes anatomic and neurophysiological malformations and secondary impairments in different levels of development. The objective of this study was to analyze the speech, audiologic and neuropsychological aspects of a patient carrier of Opitz Syndrome, comparing the clinical and instru¬mental findings to the ones in the literature known. The subject focused in the research was R.A.C., a 16 year-old male attending the fourth grade of primary school. The results obtained highlight satisfactory performances concerning remote memory, opticum-spatial organization of the motor act, as well as complex forms of praxias. Maturational deficits were observed in the cognitive tasks related to the motorial and perceptional organization of the intellectual operations in space, pragmatic language and semantics. Handicaps in specific areas of reading, writing and numeric were significantly determining for the diagnosis of learning disorders.

Motor neuropathies mimicking amyotrophic lateral sclerosis/motor neuron disease.

We report three patients in whom the initial diagnosis was of possible A myotrophic lateral sclerosis (ALS/MND) according to the 'El Escorial Criteria'. All of them presented with monomelic paresis, atrophy of the paretic muscles and generalised brisk reflexes. The initial electromyograms showed a neurogenic pattern in the limbs with normal sensory and motor conduction velocities. Laboratory evaluation and imagiological investigations were normal in all of them. The previous diagnosis was changed in to demyelinating motor neuropathy with conduction block in 2 patients and tomaculous neuropathy in one after clinical and electromyographic follow-up and nerve biopsy. Patients 1 and 2 were given intravenous immunoglobulin treatment and showed moderate improvement.