Gene/Protein Disease Symptom Drug Enzyme Compound
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Exophthalmos occurs in more than half of the patients with childhood Graves' disease, while severe Graves' ophthalmopathy is uncommon in children. Myasthenia gravis is even more rare in association with Graves' disease. A 7-year-old girl is reported; she had ptosis for two years; this was treated irregularly, and she then developed exophthalmos, ophthalmoplegia and thyroid goiter. Her laboratory tests showed T3 496 ng/dl, T4 17.05 ug/dl, TSH < 0.1 uU/ml, fT4 > 4.2 ng/dl. Antithyroglobulin antibody was 1:25600 and antimicrosomal antibody was 1:102400. Myasthenia gravis was confirmed by a positive neostigmine test. Due to allergic reaction to propylthiouracil, she was treated with carbimazole and propranolol. Thereafter the thyrotoxicosis was was well controlled. The ocular-type myasthenia gravis remained stable with minimum medical treatment.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Graves' disease associated with myasthenia gravis: report of one case. 130 32

Congenital Horner's syndrome is an infrequent illness caused by a lesion of the cervical sympathetic nerve fiber. It's clinical features are facial anhidrosis, ptosis, miosis, and hypochromia iridis of the affected side. The subject of this report, a full-term male newborn, had had a smooth birth process but was found on the second day of life to have narrowing of the palpebral fissure and absence of facial flushing on the right side when he cried. Ophthalmologic examination revealed a smaller right pupil. The above abnormalities proved to result from a post-ganglionic lesion, after pharmacologic test. Roentgenograms of the skull, chest and cervical spine were normal, and a computed tomography scan of the cervical spine showed no abnormalities. The diagnosis was of congenital Horner's syndrome. Since no congenital Horner's syndrome to the newborn period could be found in previous literature, this report is presented.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Congenital Horner's syndrome: report of one case. 151 4

A newborn with ambiguous external genitalia and the stigmata of Turner syndrome presented with the following features: short stature, hypertelorism, bilateral epicanthal folds, ptosis, low-set ears with prominent auricles, high-arched palate, low posterior hairline, webbed neck, broad and short chest, widely-spaced and hypoplastic nipples and clitoris-like phallus with hypospasdias. He also had patent ductus arteriosus, the secundum type of atrial septal defect and mitral stenosis. Chromosomes of peripheral blood showed mosaicism of cells with 45,XO/46,XY. An exploratory laparotomy was performed at five months of age. The right side ovotestis-like gonad was removed. The left side gonad in the scrotum was normal. No pathological gonadoblastoma was found.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:45,XO/46,XY in a newborn with the stigmata of Turner syndrome: report of one case. 226 84

Fourteen patients (10 boys, 4 girls) aged from 4 months to 14 years old were diagnosed with mitochondrial disease based on the clinical manifestations together with abnormal muscle mitochondrial morphologies. Their clinical diagnoses included Leigh syndrome, three; Menkes' syndrome, three; Kearns-Sayre syndrome, two; myoclonic epilepsy with ragged fibres, one; and infant-onset progressive myoclonic epilepsy, one; fatal infantile mitochondrial myopathy, one; fatty acid oxidation defect, two; and myopathy with cardiopathy, one. Organs involved other than muscles included central nervous system, ten; heart, six; eye, two; liver, two; and kidney, two. Clinical manifestations varied to include hypotonia, seizures, myoclonus, mental retardation, nystagmus, ataxia, ptosis, ophthalmoplegia, retinal degeneration, muscle atrophy, spasticity etc. Nine had an abnormal rise in lactate after glucose loading. Ragged-red fibres were found in four patients. Abnormal mitochondrial morphology included abnormal accumulation, abnormal cristae pattern of tubular, concentric, or parallel form, some contained osmiophilic inclusion bodies. One patient of Leigh syndrome had had brain necropsy which showed intramyelin splitting of myelinated axons.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Clinical manifestation of mitochondrial diseases in children. 821 54

A case is reported of a 16-month-old girl who presented with generalized hypotonia, ptosis and persistent low grade fever after a previous pneumonia. Brain CT and MRI showed symmetric necrotizing lesions in the basal ganglia, substantia nigra and periaqueduct area. Lactate and pyruvate levels were elevated in both the blood and cerebrospinal fluid. Biopsy of the rectus femoris muscle for electron microscopic examination revealed some distortion of the mitochondrial cristae. Biochemical study showed normal respiratory chain enzymes. Leigh disease was considered from the neuroradiological findings and morphological investigations.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Leigh disease (subacute necrotizing encephalomyelopathy): report of one case. 821 61