ophthalmoplegia/hypoxia

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Pediatric internuclear ophthalmoplegia.

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Logi sisse

BACKGROUND Internuclear ophthalmoplegia (INO) is a rare eye movement disorder in the pediatric population. METHODS We performed a retrospective review at a university-based tertiary referral ophthalmology practice from 2004 to 2012 to identify pediatric patients with INO. RESULTS Three patients with

[Moebius syndrome. Three different forms of presentation].

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Logi sisse

BACKGROUND Moebius's syndrome is an entity present at birth, characterized by oculofacial paralysis and external ophthalmoplegia. Other cranial nerves can also be affected and associated to skeletal abnormalities and neurologic symptoms. It appears sporadically, sometimes of familiar nature,

[A case of Kearns-Sayre syndrome with impaired respiratory regulation].

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Logi sisse

We reported a case of Kearns-Sayre syndrome with impaired respiratory regulation. A 55-year-old male was admitted to our hospital complaining of chronic progressive external ophthalmoplegia, limb muscle weakness and dyspnea. On admission, because arterial blood gas analysis showed marked alveolar

Pulmonary function and ventilatory response to chemical stimuli in familial myopathy.

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Logi sisse

We studied the pulmonary function and ventilatory response to carbon dioxide and hypoxia in three sisters aged 16, 13, and 10 years who presented with droopy eyelids, external ophthalmoplegia, hearing loss, speech difficulty, and truncal muscular weakness. Pulmonary function test results showed

Centronuclear myopathy: clinical aspects of ten Brazilian patients with childhood onset.

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Logi sisse

We herein present 10 patients with the childhood onset form of centronuclear myopathy. All patients underwent a clinical and neurologic examination, and EMG/NVC. A series of ancillary examinations, consisting of muscle enzymes, EEG, EKG, echocardiogram, pulmonary function tests and head CT scan was

Recurrent respiratory insufficiency and depressed ventilatory drive complicating mitochondrial myopathies.

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Logi sisse

Three patients with mitochondrial myopathies and progressive external ophthalmoplegia had repeated episodes of respiratory failure requiring assisted ventilation. Studies in these patients and asymptomatic family members, as well as a sporadic case of Kearns-Sayre syndrome, demonstrated markedly

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