The clinical manifestations and psychomotor development of five patients with mucolipidosis IV (MLIV) from three Ashkenazi-Jewish families are reported. The presenting symptoms were hypotonia, developmental delay, corneal clouding, and puffy eyelids. Four of the patients had convergent strabismus and none progressed beyond a developmental age of 15 months. One patient died of aspiration at 17 years while the oldest patient entered puberty at 20 years, developed a coarse face at 30 years, and is now 32 years old. Histopathological studies in four patients showed storage changes characteristic of MLIV.
This paper retrospectively analyses the clinical data of 65 consecutive cases of hemifacial spasm. A benign etiology was clinically evident in the majority of cases. Neuroradiologic investigation ruled out serious intracranial pathology in atypical cases. Trials of oral medication in 26 patients were consistently unsuccessful. Fifty-one patients had repeated lid and facial muscle injections of botulinum toxin during a period of 8 years. The mean duration of effective relief from spasm following an initial treatment was 18.9 weeks. This effect did not diminish with repeated injections.
When a predetermined surgical strategy is applied to individual patients with unilateral superior oblique palsy, excellent functional improvement can be achieved in the majority of patients.
The clinical spectrum of either purely or partially restrictive strabismus is very broad. The clinical evaluation of patients with this problem must include a careful and detailed history, which is crucial to establishing the diagnosis and must also explore the patient's concerns. Analysis of fixation, head posture, and ocular alignment require both traditional and special examination techniques. Patient and surgeon expectations must be synchronized preoperatively. A variety of surgical strategies can be applied to improve head posture, eliminate diplopia, and improve cosmesis.
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