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A cases of myotubular myopathy in a 10 years old girl is reported. Clinically, palpebral ptosis, ocular movements limitation, facial diplegia, positivity of Gower's test, muscular hypotrophy distal, foot drop and deep absent reflexes were found. These signals were described by most of authors, besides symptoms referred, like partial urinary incontinency and frequent vomits. Reflexes H absents and teary in our patient were observed but were not described in the other cases of the literature. Routine laboratory tests were within normal limits; only aldolase was lightly elevated. In all muscles examined it was noted a spontaneous electromyographic activity with +- of 2,64 +/- 1,33 ms, 36,87 +/- 30,87 microV and 88,13 +/- 24,82 /s of frequency without characteristics of desenervation potentials of myoneural plates. The voluntary electromyographic activity was of myopathic pattern. A curve I/D made in the motor point of braquial biceps muscle was normal. The biopsy was made in the motor point of this muscle for histochemical, electron immunofluorescence and vital stain microscopy. The biopsy showed 35% of fibras with central nuclei, predominance and hypotrophy of type I fibres, in some of them there were not myofibrils in the central zone, and poor differentiation between the fibre types in oxidative enzymes reactions. The electron microscopy confirmed the histochemical studies. The direct immunofluorescence was positive in some fibres. The vital stain showed beaded subterminal motor fibres. The clinical, electromyographic and principally histological findings suggest a innervation congenital disorder of muscle fibres.
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PMID:[Myotubular myopathy: clinical, electrophysiological and histological study of a case]. 734 Jul 62

Congenital fibrosis of the extraocular muscles is an autosomal dominant congenital disorder characterized by bilateral ptosis, restrictive external ophthalmoplegia with the eyes partially or completely fixed in an infraducted (downward) and strabismic position, and markedly limited and aberrant residual eye movements. It has been generally thought that these clinical abnormalities result from myopathic fibrosis of the extraocular muscles. We describe the intracranial and orbital pathology of 1 and the muscle pathology of 2 other affected members of a family with chromosome 12-linked congenital fibrosis of the extraocular muscles. There is an absence of the superior division of the oculomotor nerve and its corresponding alpha motor neurons, and abnormalities of the levator palpebrae superioris and rectus superior (the muscles innervated by the superior division of the oculomotor nerve). In addition, increased numbers of internal nuclei and central mitochondrial clumping are found in other extraocular muscles, suggesting that the muscle pathology extends beyond the muscles innervated by the superior division of cranial nerve III. This report presents evidence that congenital fibrosis of the extraocular muscles results from an abnormality in the development of the extraocular muscle lower motor neuron system.
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PMID:Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. 906 52

Norepinephrine (NE), a vital neurotransmitter in both the central and peripheral nervous systems, is synthesized by dopamine beta-hydroxylase (DBH) through the oxidation of dopamine (DA) to NE. DBH deficiency is a congenital disorder characterized by severe orthostatic hypotension, ptosis, and retrograde ejaculation. Biochemical features of the syndrome include elevated levels of dopamine, undetectable levels of DBH, undetectable tissue and circulating levels of NE and epinephrine. Molecular genetic analysis studies suggested that DBH deficiency is a Mendelian recessive disorder attributable to heterogenous mutations at the DBH locus. DBH deficiency has been treated effectively with L-threo-3,4-dihydroxyphenylserine (DOPS). DOPS is converted directly to NE through decarboxylation by L-aromatic amino acid decarboxylase (AADC), thereby bypassing DBH. Orthostatic intolerance is a syndrome characterized by lightheadedness, fatigue, altered mentation, syncope, and postural tachycardia. Biochemical features may include plasma NE concentration that is disproportionately high in relation to sympathetic outflow, decreased NE clearance with standing, resistance to the NE-releasing effect of tyramine, and increased sensitivity to adrenergic agonists. A subset of OI patients has pathophysiologic features that have been associated with a genetic polymorphism. The coding mutation, A457P, occurs in one of the alleles of norepinephrine transporter gene of a proband with OI and her family. Alpha-methyl dopa, beta blockers and clonidine, a partial agonist of alpha2-adrenoceptor that acts centrally to reduce sympathetic outflow and lower blood pressure, have been effective in the treatment of this condition. The identification of the genetic polymorphisms involved in the synthesis, transport, storage, and metabolism of the catecholamines may provide new insights into the diagnosis and management of autonomic, cardiovascular, endocrine and psychiatric disorders.
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PMID:The broader view: catecholamine abnormalities. 1210 62

Strabismus fixus is a rare condition and usually is of convergent type in which one or both eyes are anchored in a position of extreme adduction. Convergent type strabismus fixus is considered to be a congenital disorder and a part of congenital extraocular muscle fibrosis syndrome. Villasecca and Martinez described an acquired type of strabismus fixus. Hayashi et al reported that progressive esotropia could develop into the acquired type of convergent strabismus fixus. There are very few reports of divergent strabismus fixus in the literature. It may or may not be accompanied by ptosis or generalized extraocular muscle fibrosis. In our report, a case of divergent type strabismus fixus is described and discussed.
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PMID:Divergent strabismus fixus--a case report. 1270 80

Schwartz-Jampel syndrome (SJS) is a rare congenital disorder of continuous myotonia, causing visual and eyelid problems such as blepharospasm, acquired ptosis, and blepharophimosis. We report the management of blepharospasm in two sisters with Schwartz-Jampel syndrome with application of botulinum toxin type A (BTX-A), as an alternative to the surgical treatments, such as orbicularis oculi myectomy, levator aponeurosis resection, and lateral canthopexy as described in the literature. Three consequent doses of commercially available BTX-A (Botox-Allergan, Inc. 100 u/via) were injected to orbicularis oculi muscle in two sisters with Schwartz-Jampel syndrome. At the least, the authors waited for a six-month interval to prevent development of sensitivity to BTX-A in patients. No significant improvement was observed after the injection of first dose of BTX-A, with the total dose of 25 units of BTX-A to each orbicularis oculi muscle of the eyes. The muscle tone weakened after the second dose, which was the twice as such of the first applied total dose (50 units of BTX-A to each orbicularis oculi muscle of the eyes) and significant functional and cosmetic improvements were achieved after injection of the third dose, in which the total applied dose was the same as the one applied in second dose. The blepharospasm and eyelid alterations caused by Schwartz-Jampel syndrome should be treated to provide functional and cosmetic improvements. Application of BTX-A to orbicularis oculi muscle for the treatment of blepharospasm could be considered as an alternative to levator resection, and lateral canthopexy in Schwartz-Jampel syndrome.
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PMID:Results of botulinum toxin: an application to blepharospasm Schwartz-Jampel syndrome. 1687 9

Native American myopathy (NAM) [OMIM 255995], a putative autosomal recessive disorder, was first reported in the Lumbee Indians of North Carolina. NAM features include congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH) provoked by anesthesia. This report documents the phenotypic complexity and natural history of this rare congenital disorder in fourteen individuals with NAM. Findings include a previously unreported 36% mortality by age 18. Based on this study, our conservative estimate for prevalence of NAM within the Lumbee population is approximately 2:10,000; however, birth incidence remains unknown.
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PMID:Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia. 1855 14

Cornelia de Lange syndrome (CdLS), a congenital disorder characterized by growth and mental retardation, hirsutism, and skeletal and cardiac anomalies, has been associated with a number of ophthalmic abnormalities including synophrys, long eyelashes, myopia, nasolacrimal duct obstruction, and ptosis. Only one case of Coats' disease has been described in the setting of this syndrome.(1) We describe a second case of Coats' disease in a five-year-old boy with this condition.
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PMID:Coats' disease, megalopapilla and Cornelia de Lange syndrome. 1937 84

Fibrosis of the extraocular muscles can be an acquired or congenital disorder (CFEOM). The congenital disorder(1) is a complex strabismus with congenital restrictive ophthalmoplegia with or without ptosis. The surgery is challenging because the eye muscles are replaced by fibrous tissue or fibrous bands and in most cases the results are not satisfactory. We present the first case report of unilateral CFEOM with palpebral adherence and hypotropia, which was managed with our technique of a silicon plate implant on the orbital floor. The purpose of the implantation of the silicon plate in the orbital floor is to improve the hypotropia caused by CFEOM.
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PMID:Unilateral congenital fibrosis of the extraocular muscles with lid retraction: surgical treatment with a silicon plate on the orbital floor. 2131 37

Noonan syndrome describes a rare multisystem condition that manifests with Turner syndrome phenotype combined with numerous systemic and facial characteristics. The most common systemic findings include cardiac defects, short stature, chest deformity, hearing loss, and bleeding diatheses. Patients with Noonan syndrome are also at a greater risk of developing various types of malignancies. Facial characteristics of Noonan syndrome consist of broad forehead, low-set ears, short and webbed neck, and low hairline. External ocular findings include hypertelorism, ptosis, epicanthal folds, antimongoloid slant, downward-sloping palpebral fissures, and malar flattening. In this case series and review of the literature, the authors present 2 cases of Noonan syndrome that embody the diverse spectrum of orbital manifestations associated with this rare disorder. The first case demonstrates more profound orbital pathology, including bilateral orbital giant cell reparative granulomas, proptosis, hypertelorism, shallow orbits, upper eyelid ptosis, and lower eyelid retraction. The second case displays classic Turner-syndrome-like facial characteristics including a broad forehead with low hairline, low-set ears, and short and webbed neck. Orbital findings were subtle and consisted of bilateral lower eyelid retraction and shallow orbits. In conclusion, Noonan syndrome is a rare congenital disorder with a wide spectrum of clinical findings. Various intraorbital and extraorbital tumors may occur in patients with Noonan syndrome, with giant cell reparative granuloma being the most commonly encountered. In patients with orbital tumors and eyelid retraction, the authors describe successful treatment through decompression, tumor extraction, and lower eyelid retractor release. Patients who present with ocular irritation and exposure due to less severe lower eyelid malposition may be successfully treated with lower eyelid retraction repair combined with lateral internal tarsoconjunctival tarsorrhaphy.
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PMID:Orbital manifestations of Noonan syndrome. 2146 91

Cyclic oculomotor nerve paresis is a rare and usually congenital disorder. It is characterized by unilateral third nerve paresis with periodic spasms causing eyelid elevation, miosis, and contraction of 1 or more of the extraocular muscles innervated by the third nerve. We report a 20-month-old girl who presented initially with a congenital partial right third nerve paresis without ptosis. She subsequently developed isolated cyclic spasms of the pupil followed several months later by permanent partial ptosis.
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PMID:Congenital Oculomotor Nerve Paresis With Isolated Cyclic Pupillary Spasms. 2611 77


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