muscle hypotonia/opuch

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Non-Immune Hydrops, Hypotonia, Encephalopathy, and Liver Failure with Novel Compound Heterozygous AHCY Mutations.

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A late-preterm infant with a prenatal diagnosis of non-immune hydrops was born with hypotonia, poor respiratory effort, chylothorax, encephalopathy, coagulopathy, progressive hepatic failure, and refractory pulmonary hypertension. Life support was withdrawn at 7 days of life due to multisystem organ

[On edema of the deep membranes caused by hypotonia after antiglaucomatous operations].

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[Difficult diagnosis of papillary edema due to hypotonia].

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[Fluorographic aspect of papillo-retinal edema due to hypotonia].

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Hearing decrease after loss of cerebrospinal fluid. A new hydrops model?

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In a prospective study of 12 patients undergoing operation for acoustic neuromas the hearing on the contralateral ear was tested before and systematically day by day after operation. In 11 cases a perceptive loss of at least 20 dB was found at one or more frequencies during the first 2 postoperative

Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus.

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We describe a single male infant who developed severe hydrops fetalis between 19 and 28 weeks of gestation. After delivery at 32 weeks he was treated by hemofiltration, prolonged ventilation and intravenous feeding. He had hypertelorism, orbital hypoplasia without proptosis, brachydactyly, frontal

Prenatal diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints.

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We present rapid aneuploidy diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin by aCGH using uncultured amniocytes in a fetus with hypotonia, scoliosis, arthrogryposis, hyperextensible joints, facial dysmorphism, ventricular septal defect,

Low-frequency hearing loss after spinal anesthesia. Perilymphatic hypotonia?

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Audiological tests were conducted on 34 patients before and after undergoing an operation under spinal anesthesia. One of these patients developed a considerable unilateral hearing loss in the low-frequency range, which persisted until an epidural blood-patch was given. Unexpectedly, we also found a

[Clinical and computed tomographic observations on newborn infants with generalized brain edema due to perinatal asphyxia].

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We observed a sudden respiratory arrest in four term newborn infants after a clinically symptom-free period. There were no cardiac, pulmonary or metabolic changes responsible for these events. Signs of cerebral dysfunction existed (muscular hypotonia, jitterness, seizures). Cranial computerized

S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes.

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This paper reports the clinical and metabolic findings in two sibling sisters born with fetal hydrops and eventually found to have deficient S-adenosylhomocysteine hydrolase (AHCY) activity due to compound heterozygosity for two novel mutations, c.145C>T; p.Arg49Cys and c.257A>G; p.Asp86Gly.

Nonleaking cystoid macular edema in Cohen syndrome.

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An 11-year-old girl with a history of neutropenia, developmental delay, hypotonia, and intellectual disability was diagnosed with Cohen syndrome after genetic testing discovered homozygous mutation in the VPS13B gene. She was referred to a retinal specialist with a chief complaint of decreased

[Effect of nootropil and contvykal on the structural changes in the central nervous system in hypoxic brain edema].

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The brain cortex of rabbits exposed to 15-minute ishemia in the presence of monitored hypotonia was studied in 27 experiments in order to verify the efficacy of nootropil and contrykal as agents intended for the treatment of posthypoxic edema of the brain. The therapeutic efficacy was assessed on

Hydrops fetalis associated with congenital myotonic dystrophy.

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We report a case of congenital myotonic dystrophy in a newborn infant who presented with hydrops fatalis. Clinical features were hypotonia, generalized edema, pleural effusion, respiratory distress, scalp hematomas, and tented mouth facies. Review of literature shows that congenital myotonic

Significant hyperopic shift in a patient with extreme myopia following severe hypotonia caused by glaucoma filtering surgery.

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BACKGROUND To report the case of a high hyperopic refractive shift associated with significant shortening of the ocular axial length following glaucoma filtering surgery. METHODS Case report. Patient's records were consulted retrospectively. RESULTS A 57-year-old woman, highly myopic, with a history

[Early and late findings with optical coherence tomography (OCT) in patients with postoperative hypotonia].

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OBJECTIVE To study early and late findings of macular retinal thickness in patients with hypotony following filtering procedures. METHODS 13 patients who had undergone trabeculectomy (9 with antimetabolites) developed ocular hypotony. The macular region appeared normal during biomicroscopy in 8

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