Turner syndrome in a neonate

Turner's syndrome (TS) is the common chromosomal abnormality. However, it is diagnosed rarely in the neonatal period. In many cases the diagnosis of TS may be delayed until childhood, when evaluation for short stature yields the diagnosis, or adolescence, when combination of growth failure and pubertal delay suggests the possibility of TS. Girls with TS are usually treated with growth hormone and oestrogen replacement therapies for short stature and oestrogen deficiency. A multidisciplinary team is usually required for management. Authors report an 11 day old infant who was diagnosed as Turner's syndrome. The classic clinical feature, lymphoedema clinched the diagnosis in our case which was confirmed by chromosomal analysis. The infant was discharged and asked to follow up for regular growth monitoring and parents were counselled regarding the condition.

Clinical features of girls with Turner syndrome in a single centre in Malaysia / Journal of the ASEAN Federation of Endocrine Societies

@#<p><strong>OBJECTIVES:</strong> Diagnosis of Turner syndrome in Malaysia is often late. This may be due to a lack of awareness of the wide clinical variability in this condition. In our study, we aim to examine the clinical features of all our Turner patients during the study period and at presentation.</p><p><strong>METHODOLOGY:</strong> This was a cross-sectional study. Thirty-four (34) Turner patients were examined for Turner-specific clinical features. The karyotype, clinical features at presentation, age at diagnosis and physiologic features were retrieved from their medical records.</p><p><strong>RESULTS:</strong> Patients with 45,X presented at a median age of 1 month old with predominantly lymphoedema and webbed neck. Patients with chromosome mosaicism or structural X abnormalities presented at a median age of 11 years old with a broader clinical spectrum, short stature being the most common presenting clinical feature. Cubitus valgus deformity, nail dysplasia and short 4th/5th metacarpals or metatarsals were common clinical features occurring in 85.3%-94.1% of all Turner patients. Almost all patients aged ?2 years were short irrespective of karyotype.</p><p><strong>CONCLUSION:</strong> Although short stature is a universal finding in Turner patients, it is usually unrecognised till late. Unlike the 45,X karyotype, non-classic Turner syndrome has clinical features which may be subtle and difficult to discern. Our findings underscore the importance of proper serial anthropometric measurements in children. Awareness for the wide spectrum of presenting features and careful examination for Turner specific clinical features is crucial in all short girls to prevent a delay in diagnosis.</p>

Compliance to Supervised and Home Based Diet and Exercise Weight Loss Programmes for Overweight Women with Breast Cancer Related Lymphoedema.

Background: Weight loss can improve breast cancer related lymphoedema [BCRL] (Shaw et al. [1]), but is not routinely advised in clinical practice which just involves standard arm mobility exercises. We are determining whether supervised or home based diet and exercise weight loss programmes are effective for reducing weight and lymphoedema in a feasibility study This abstract presents preliminary data on compliance to the weight loss interventions. Aims: To evaluate change in weight, body fat, waist circumference, dietary intake and physical activity in breast cancer survivors’ with lymphoedema who were randomised to either a 12 week supervised or home based diet and exercise weight loss programme or two comparison groups.Methods: Ethical approval was granted by North West 10 Research Ethics Committee – Greater Manchester North 11/H1011/2 .Fifty seven overweight breast cancer survivors’ with lymphoedema were randomly assigned: Supervised group, diet and exercise weight loss advice delivered during weekly sessions at the research facility (n= 12); Home- based group, diet and exercise weight loss advice via fortnightly phone calls and tailored mailings (n=16); Comparison group 1, arm mobility and standard written weight loss advice group (n=12); Comparison group 2, arm mobility advice only group who did not receive any weight loss advice (n= 17). Data Analysis: Weight and body fat, measured via DXA and waist circumference were assessed at baseline and 12 weeks. Seven day diet and physical activity diaries were analysed for changes in energy intake and cardiovascular activity. Changes in variables apply last observation carried forward analysis. There were no planned statistical analyses in this feasibility study. Results: Four participants from the home- based diet + exercise group and four from comparison group 2 dropped out of the study. The supervised and home based groups had numerically greater reductions in body weight and body fat than the comparison groups. Changes in body fat and waist circumference represent real reductions in general and central adiposity, which are independent of any changes in weight and body water which may occur in patients with lymphoedema. Discussion: The successful reductions in body weight and fat with the two lifestyle interventions show it is possible to reduce adiposity in overweight women with BCRL. Conclusion: Further analysis from this pilot trial will assess changes in lymphoedema between the groups. The longer term adherence and success of the home based and supervised interventions would need to be tested in a larger randomised trial.

Síndrome de Sweet localizado sobre linfedema: descripción de un caso y revisión de la literatura / Sweet´s syndrome located on lymphoedema: a case report and review of literature

Comunicamos el caso de una mujer de 63 años de edad, que desarrolló lesiones compatibles con un síndrome de Sweet, localizadas en el miembro sometido a linfadenectomía e irradiación, debido a una neoplasia maligna neural. Efectuamos comentarios del caso y los comparamos con la bibliografía publicada.

A 63 years-old woman treated wit lymphadenectomy and radiotherapy due a malignant neural neoplasia, developed lesions of a Sweet's syndrome, localized in the area treated. A review and comparative study of the previous papers are made.

Lymphoedema - distichiasis syndrome with recurrent abortions.

Lymphoedema-distichiasis syndrome, a type of familial lymphoedema praecox, is a rare, primary lymphoedema of pubertal onset associated with distichiasis and other associations including congenital heart disease, ptosis, varicose veins, cleft palate, and spinal extradural cysts. We report a case of familial lymphoedema with associated distichiasis, atrial septal defect, varicose veins, and recurrent abortions in a 29-year-old female.

Yellow nail syndrome in a medical clinic / El síndrome de las uñas amarillas en una clínica médica

Yellow nail syndrome is a very rare clinical entity usually diagnosed from a combination of yellow dystrophic nails, lymphoedema and respiratory diseases. The aetiology is not known though dysfunctional hypoplastic lymphatics is speculated. Most cases occur sporadically but few cases may be associated with systemic diseases or may be inherited. This report documents another case in a 56-year old Caribbean female who presented with a six-year history of recurrent respiratory symptoms and later yellow dystrophic nails and lymphoedema. She responded well to vitamin E and oral fluconazole. We also did a short literature review of yellow nail syndrome.

El síndrome de las uñas amarillas es una entidad clínica muy rara, la cual usualmente se diagnostica a partir de una combinación de uñas amarillas distróficas, linfedemas, y enfermedades respiratorias. Se desconoce la etiología, aunque se especula que se debe a vasos linfáticos hipoplásticos disfuncionales. La mayoría de los casos ocurre esporádicamente pero pocos casos pueden asociarse con las enfermedades sistémicas o pueden ser heredados. Este informe documenta el caso de una mujer caribeña de 56 años, que se presentó con antecedentes de síntomas respiratorios recurrentes y más tarde con uñas amarillas distróficas y linfedemas. Durante el tratamiento, respondió bien a la vitamina E y al fluconazol oral. El trabajo también realiza una breve revisión de la literatura del síndrome de las uñas amarillas.

Linfangite granulomatosa de genitália infantil: relato de caso e revisão da literatura / Granulomatous lymphangitis of children's genitalia: report of a case and review of the literature

Linfangite granulomatosa de genitália não-infecciosa é causa rara de linfedema genital autolimitado e idiopático em crianças(4, 6, 9). A maioria dos casos de linfedema com granuloma não-infeccioso de genitália em pacientes jovens ocorre em associação à doença de Crohn subseqüente ou concomitante(1, 3, 4, 9). O caso relatado é de um menino de 14 anos que apresentava história de linfedema genital principalmente em região dorsal do corpo do pênis, poupando prepúcio, parte distal do pênis e saco escrotal. Estudos laboratoriais não revelavam doenças sistêmicas. O exame anatomopatológico da peça revelou tratar-se de linfangite granulomatosa não-infecciosa.

Non-infectious granulomatous lymphangitis of genitalia is a rare cause of self-limited and idiopathic genital lymphoedema in children(4, 6, 9). Most cases of lymphoedema with non-infectious genital granulomas in young patients occur subsequent to or concomitant with Crohn's disease(1, 3, 4, 9). The case described is of a 14-year-old boy with history of genital lymphoedema mainly on the dorsal region of the body of the penis, sparing the prepuce, the distal part of the penis and the scrotum. Laboratory studies did not reveal systemic diseases. The histopathological analysis showed it was non-infectious granulomatous lymphangitis.