1/12. pseudotumor cerebri in children receiving recombinant human growth hormone.PURPOSE: This article represents the first report in the ophthalmology literature of an association between pseudotumor cerebri (PTC) and recombinant human growth hormone (rhGH). DESIGN: Noncomparative case series. PARTICIPANTS: Three children receiving rhGH for short stature with turner syndrome, Jeune syndrome, or down syndrome. methods: Children underwent full ocular examination. After papilledema was identified, patients underwent lumbar puncture and imaging with either magnetic resonance imaging or computerized tomography. Treatment was under the guidance of the primary physician or neurosurgeon. The rhGH was discontinued in all children. MAIN OUTCOME MEASURES: visual acuity and evaluation of the optic nerve for resolution of papilledema were followed at each examination. RESULTS: In all three cases, papilledema resolved with the cessation of rhGH, and treatment with acetazolamide or prednisone. visual acuity was unchanged in case 1, decreased by two to three lines in case 2, and was inconsistent in case 3. One child (case 2) required a ventriculoperitoneal shunt for persistent elevation of intracranial pressure. CONCLUSION: There appears to be a causal relationship between the initiation of rhGH with the development of PTC. Children should have a complete ophthalmic evaluation if they report headache or visual disturbances. Baseline examination with routine follow-up should be instituted when children cannot adequately communicate.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
2/12. Identification and evaluation of mental retardation.Mental retardation in young children is often missed by clinicians. The condition is present in 2 to 3 percent of the population, either as an isolated finding or as part of a syndrome or broader disorder. Causes of mental retardation are numerous and include genetic and environmental factors. In at least 30 to 50 percent of cases, physicians are unable to determine etiology despite thorough evaluation. diagnosis is highly dependent on a comprehensive personal and family medical history, a complete physical examination and a careful developmental assessment of the child. These will guide appropriate evaluations and referrals to provide genetic counseling, resources for the family and early intervention programs for the child. The family physician is encouraged to continue regular follow-up visits with the child to facilitate a smooth transition to adolescence and young adulthood.- - - - - - - - - - ranking = 2keywords = physician (Clic here for more details about this article) |
3/12. thyrotoxicosis in Down's and Turner's syndromes: the likelihood of Hashimoto's thyroiditis as the underlying aetiology.Biochemical thyrotoxicosis in young women is almost invariably due to Graves' disease. Its occurrence in females with Turner's and Down's syndromes, both of which are seldom associated with Graves' hyperthyroidism but are frequently allied to Hashimoto's thyroiditis, should alert physicians to the possibility of the latter. The discharge thyroiditis of Hashimoto's disease can be recurrent and protracted. A brisk response to antithyroid therapy would favour a thyroiditis and, in this circumstance, radio-iodine uptake should be reduced. The absence of TSH receptor antibodies in such cases, while not wholly refuting the notion of active Graves' disease, lends support to the existence of Hashimoto's thyroiditis.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
4/12. Treatment of elastosis perforans serpiginosa with the flashlamp pulsed dye laser.BACKGROUND: Elastosis perforans serpiginosa (EPS) is an uncommon and chronic dermatosis characterized by the transepidermal elimination of altered elastic fibers originating in the dermis. Frequently arranged in an arcuate or serpiginous pattern, the end stage of the disease is atrophic or stellate-shaped scars. OBJECTIVE: Prior therapy has primarily involved cryotherapy with liquid nitrogen which may cause scar or keloid formation. We present our experience using the flashlamp pulsed dye laser to treat EPS. methods: A young man with down syndrome was referred by his primary care physician for treatment of a chronic dermatosis unresponsive to topical therapy. The clinical findings were consistent with EPS, and a biopsy specimen and elastic tissue stain confirmed the diagnosis histologically. After a successful test spot, treatment was begun on the erythematous papules using a flashlamp pulsed dye laser (585 nm) with a 5 mm spot size and fluences of 6.0-7.0 J/cm2. RESULTS: Treated areas showed moderate to marked improvement overall. There was less erythema, thickness, and scarring in treated areas compared with active or end-stage lesions. CONCLUSION: The flashlamp pulsed dye laser may be an effective treatment method for EPS.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
5/12. trisomy 21 and rett syndrome: a double burden.rett syndrome is a severe neurodevelopmental disorder generally affecting girls. Affected individuals are apparently normal at birth but later pass through a period of regression with loss of hand and communication skills and the development of hand stereotypies and dyspraxia. Mutations in the methyl-CpG binding protein 2 (MECP2) gene, have now been found to cause rett syndrome in up to 80% of classical cases. We report a girl with down syndrome, one of three children with birth defects in a family of five. From the age of 18 months she developed symptomatology considered by her primary physician to be very characteristic of rett syndrome. However, this remained a clinical diagnosis till the age of 12 years. Laboratory confirmation of the dual diagnosis, which includes a R168X mutation in the MECP2 gene in addition to trisomy 21, has now been possible. The presence of one neurological or developmental disorder does not necessarily preclude a diagnosis of rett syndrome.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
6/12. Severe mycoplasma pneumonia in young children with down syndrome.Three young children with down syndrome developed fever, cough, wheezing, irritability, and tachypnea. They had bilateral infiltrates on their chest radiographs and developed respiratory distress, which required their hospitalization. Laboratory studies suggested that the children had mycoplasma pneumonia. These children may have experienced severe mycoplasma infections early in life because of their down syndrome-associated immune abnormalities. When young children with down syndrome develop pneumonia, physicians should consider mycoplasma pneumoniae as the possible etiologic agent.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
7/12. Eyelid mass as the presenting finding in a child with down syndrome and acute megakaryoblastic leukemia.Children with down syndrome are at increased risk of developing acute megakaryoblastic leukemia (AML). Therefore, physicians caring for children with down syndrome should be familiar with the presenting features of AML. We describe a child with down syndrome presenting with a left eyelid mass 1 month before a diagnosis of acute AML.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
8/12. Difficulty in securing treatment for degenerative hip disease in a patient with down syndrome: the gap remains open.In 2002, the office of the U.S. surgeon general published a report detailing the discrepancies between the quality of healthcare afforded to persons with and without mental retardation. This article examines the case of a female resident of a developmental center with profound mental retardation due to down syndrome and degenerative hip disease. Although she was in urgent need of a total hip replacement, the operation was denied or delayed by several different surgeons. Using a survey of physician attitudes, we examine several possible motivations behind the surgeons' reluctance to perform the procedure and conclude that these reasons were not appropriate in this case. Finally, we reiterate the surgeon general's call to eradicate preconceptions held in the medical community about the population of persons with mental retardation that result in similar failures to provide adequate care.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
9/12. Hospital outbreak of hepatitis a: risk factors for spread.A 34-month-old girl with Down's syndrome from the Marshall islands was hospitalized in September, 1981, at Tripler Army Medical Center for evaluation of a heart murmur and definitive repair of an imperforate anus for which she had had a colostomy since birth. She became jaundiced and had serologic evidence of hepatitis a infection. Over the next month eight hospital personnel (four nurses, three nursing assistants and one physician) who had had direct contact with the patient became ill with hepatitis a. Our patient, like the index cases in five previous reports of nosocomial hepatitis a outbreaks, was incontinent of feces. In addition she was hospitalized during the incubation period before clinical illness when virus fecal excretion is likely to be maximal. patients in the prodromal stage of hepatitis a infection who are hospitalized pose a significant risk to exposed hospital staff. This risk is enhanced if there are additional factors present which promote spread of disease by the fecal-oral route such as infancy, mental retardation, diarrhea and fecal incontinence.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
10/12. down syndrome associated with systemic lupus erythematosus: a mere coincidence or a significant association?An 8-year-old male, who had down syndrome associated with systemic lupus erythematosus (SLE), is described. He also had a partial complement 4 deficiency. This case is a reminder that the physician should be aware of the possibility of an immune defect in a male presenting with SLE at a young age. The question of whether the association of down syndrome with SLE is coincidental or whether there is a predilection for autoimmune disorders in down syndrome is discussed.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
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