Homer's syndrome: An unusual presentation of Hodgkin's disease

Horner's Syndrome (ptosis, anisocoria, and anhydrosis) developed in a 22-year-old woman. A mediastinal mass was noted on chest x-ray. Further evaluation led to a diagnosis of Hodgkin's disease, nodular sclerosis type. Horner's syndrome is an unusual initial manifestation of Hodgkin's disease, and, in this case, it was due to oculosympathetic damage from mediastinal compression. Because the potential for cure is high in Hodgkin's disease, this diagnosis should be considered in patients presenting with Horner's syndrome.     

A case of the cardiofacial syndrome (Cayler's syndrome)

An infant whose face appears asymmetrical at rest and whose mouth is pulled downward to one side when crying is said to have an ‘asymmetric crying fades’ (ACF). The association of ACF with congenital cardiac anomalies is known as cardiofacial syndrome (Cayler's syndrome). The present report describes a case with cardiofacial syndrome and ACF associated other congenital anomalies, and provides criteria for differentiating absence of the depressor anguli oris muscle (DAOM) from palsy of the seventh cranial nerve and its central connections.     

Hyperimmunoglobulin‐E syndrome with recurrent infection: A review of current opinion and treatment

Hyperimmunoglobulin E (hyper‐IgE) syndrome with recurrent infection is a rare idiopathic primary immunodeficiency. It consists of a severe dermatitis with recurrent abscess formation, respiratory tract infections and very high titres of serum immunoglobulin E (IgE). Hyper‐IgE syndrome is also associated with skeletal abnormalities. Variability of presentation makes it easy to confuse the diagnosis with that of severe atopy or other rare immunodeficiencies. The aim of this article is to review the literature in order to consider the clinical findings, etiology and treatment of this syndrome.     

Rare connective tissue diseases in childhood

Connective tissue disorders can be primary genetic conditions such as Ehlers–Danlos syndrome or Marfan's syndrome leading to increased stretchiness of tissues with hypermobility as a common feature. The term connective tissue disease is used as an overarching category with varied autoimmune conditions such as systemic lupus erythematosus, juvenile dermatomyositis and scleroderma included. They are all frequently multi-system and multi-organ and require early recognition and referral for specialist assessment and treatment. These conditions have major morbidity and even mortality risks if not treated promptly and aggressively. Diagnoses are made primarily on the basis of pattern recognition.     

Multiple ependymomas in a patient with Turcot's syndrome

A 21-year-old woman was diagnosed with Turcot's syndrome (TS) at age 16 years. She had two ependymomas, one was located in the left middle cerebellar peduncle and the other in the low sacral spinal canal. Her mother and brother both had colectomies for colonic polyposis. Her maternal uncle and grandfather also had this disease and both died from cancer of the colon in their fourth decade of life. The patient was found to have hyperpigmented spots in the retina, skull osteomas and normal neurological examinations. The bone scan and CSF were normal and she had a germline mutation in the segment 3 of the adenomatous polyposis coli (APC) gene. Following partial resection of the two ependymomas, she was treated with radiation and chemotherapy. One year after surgery, paraspinal desmoid tumors were found and removed. She is presently 42 months postsurgical resection of the neural tumors and has remained central nervous system tumor-free. The occurrence of multiple ependymoma in TS has not been reported, and the control of this patient's ependymomas is consistent with other reports of long-term survival with TS and glial tumors. © 1997 Wiley-Liss, Inc.     

An association of craniopharyngioma in Turner syndrome

Turner syndrome (TS) (approximately 1:5,000 births) and craniopharyngioma (CP) (1:50,000 children) are both rare conditions. We present three cases of TS with CP, an association not previously described. Visual failure, poor growth or headache led to MRI diagnosis of CP. Whilst two had evidence of hypopituitarism at diagnosis of CP, they all developed hypopituitarism following surgical debulking. Two required radiotherapy due to regrowth. Whether CP and TS share a similar aetiology is unknown. Clinicians need to be aware of this association, and should perform urgent MRI scanning in TS patients with headache, visual impairment or clinical/biochemical evidence of hypopituitarism. Pediatr Blood Cancer 2013; 60: E7–E9. © 2012 Wiley Periodicals, Inc.     

Metachronous manifestations of Sweet's syndrome in a neutropenic patient with Fanconi anemia

Sweet's syndrome (SS) is an acute, febrile neutrophilic dermatosis that frequently presents with leukocytosis and erythematous plaques. Lesions show neutrophilic infiltration of the dermis and rarely other organs. We report the case of an adolescent male with chronic pancytopenia secondary to Fanconi anemia (FA) who presented with acute respiratory distress. Despite an exhaustive and ultimately unrevealing work-up, the diagnosis of pulmonary SS was not made until he developed characteristic cutaneous lesions 4 months later. Comprehensive review of pathological specimens revealed metachronous SS manifestations with infiltrates in lung parenchyma, dermis, and subcutis in this neutropenic patient.     

Keeping children and young people with Down syndrome healthy

Down syndrome (trisomy 21) is a common identifiable cause of intellectual disability. People with Down syndrome are individuals, and while there are many shared characteristics, there is considerable variability in how the syndrome manifests. Understanding the condition and its impact on individual lives can help maintain and promote health, and enable individuals to achieve their potential. There are some conditions that are more frequently seen in individuals with Down syndrome, and as such it is important not to fall into the trap of labelling all symptoms as ‘part of Down syndrome’. Awareness of some of the more frequently seen conditions will help in understanding and aid timely investigation and management - enabling individuals to access the support and care they need. In this article, we focus on our role as health professionals in supporting families, children and young people with Down syndrome. We describe some of the conditions seen more commonly in individuals with Down syndrome and our role in screening, identification and management of these.     

Reproducibility of corrected QT interval in pediatric genotyped long QT syndrome

Reproducibility of corrected QT interval (QTc), especially QTc after exercise, has not been thoroughly investigated. We reviewed charts of pediatric patients who underwent treadmill‐exercise stress testing without medication multiple times within 1 year. In patients with long‐QT syndrome (LQTS; n = 22), the discrepancy in QTc between two treadmill exercise stress tests using Fridericia's formula was 14 ± 12 ms at rest, 13 ± 12 ms 4 min after exercise, with a maximum of 14 ± 12 ms after exercise. There was no statistically significant difference in QTc between the two tests. Intraclass correlation coefficients (ICC) were 0.84, 0.85, and 0.85, respectively. In controls (n = 13), the discrepancy in QTc was 18 ± 12 ms at rest, 14 ± 7 ms 4 min after exercise, with a maximum of 14 ± 9 ms after exercise. There was no significant difference in QTc between the two tests. ICC were 0.78, 0.80, and 0.80, respectively. QTc calculated using Bazett's formula also showed high reproducibility. Reproducibility of QTc in children is high at rest and after exercise.     

Cushing's syndrome in childhood and adolescence

Objective: To review the diagnosis, management and outcome of Cushing's syndrome in children and adolescents.
Methods: We conducted a retrospective review of nine cases treated between 1976 and 1996 at the Royal Children's Hospital, Melbourne, Australia.
Results: Six children with Cushing's disease and three with primary adrenal disease were identified. Mean age at diagnosis in the Cushing's disease patients was 11.3 years and in the children with primary adrenal disease 9.5 years. The most common presenting symptoms were weight gain and delayed growth. Two children had the unusual presenting symptoms of an eating disorder and hemihypertrophy, respectively. Laboratory diagnosis of Cushing's syndrome was established by demonstration of elevated urine free cortisol, loss of normal diurnal variation of serum cortisol, and loss of suppressibility of cortisol secretion by low dose dexamethasone. Investigations used to determine the aetiology of hypercortisolism included serum adrenocorticotropic hormone (ACTH) levels, high dose dexamethasone suppression tests, imaging studies, and inferior petrosal sinus sampling. Four patients with Cushing's disease had successful transphenoidal adenomectomies. Two patients with bilateral primary pigmented nodular adrenocortical dysplasia underwent bilateral adrenalectomies. One child with an adrenal adenoma was treated by left adrenalectomy.
Conclusions: Cushing's syndrome in children and adolescents remains a diagnostic challenge. Successful treatment often requires the use of multiple tests to achieve the correct diagnosis, appropriate surgery and a good long-term outcome.     

Sweet syndrome in early childhood

A 21-month-old child with acute febrile dermatosis, leukocytosis and skin biopsy showing intradermal neutrophil infiltrate was diagnosed as suffering from Sweet syndrome. This syndrome is rare in children, described heretofore in only seven pacdiatric patients. The clinical and histological features, differential diagnosis, as well as the potential association with more widespread systemic diseases are discussed.     

Leukemia following Reye's syndrome treated with exchange transfusions: Search for type-C viral infection

A 5-year-old child developed acute lymphoblastic leukemia during convalescence from an episode of Reye's syndrome that was treated with multiple exchange transfusions. Routine laboratory, histology, and viral serology were unable to establish a common etiology for the 2 illnesses. Cultural and immunologic methods to search for evidence of infection with type-C viruses or viral genes in lymphoblasts from the buffy coat and bone marrow failed to reveal these agents. Although no common infectious etiology was defined for the close temporal occurrence of 2 rare diseases, the possibility of an iatrogenically induced malignancy was considered.     

Primary nephrotic syndrome during childhood in Turkey

BACKGROUND: Minimal change nephrotic syndrome (MCNS) is the most common cause of primary nephrotic syndrome (NS) during childhood. However, recent studies from different countries have reported an increasing incidence of focal segmental glomerulosclerosis (FSGS) in children. METHODS: This is a retrospective study in which 392 Turkish children who were diagnosed with NS during the last 10 years and were followed for at least 2 years, were evaluated. Mean age of the study group was 4.6 +/- 3.4 years (range 0.9-16 years) and 232 were male and 160 were female. RESULTS: In total, 280 patients were diagnosed as MCNS with their initial presentations, laboratory features, and clinical course. Kidney biopsy was performed in the remaining 112 children according to current recommendations. The results showed that membranoproliferative glomerulonephritis (MPGN) was the most common histopathologic diagnosis, 38 (34%) of the 112 patients were found to have MPGN. The number diagnosed as FSGS was 26 (23%). A significant difference was found between the age groups for both MPGN and FSGS, the former being more common in children >6 years of age and the latter more frequent in children 相似文献   

Intravenous immunoglobulins in severe Guillian-Barre syndrome in childhood

Objective : This is a retrospective analysis of 25 children with severe Guillaln-Barre syndrome admitted to our PICU.Method : All children were treated with intravenous immunoglobulins (IVIG) in a dose of 2 g/kg body weight over 2–5 days in addition to supportive and respiratory care. Seventeen children were elective admissions to the PICU whereas 8 children were transferred from other hospitals in a critical condition. Five of 8 of the late referrals died as compared to none of the elective admissions.Result : All 8 of the late referrals required mechanical ventilation as against 3 of the 17 elective admissions. Mean duration of PICU stay in the late referrals was 27 days as compared to 15 days in the elective admissions.Conclusion : The authors concur with previously published reports, that early use of IVIG could reduce the mortality and the need for intubation and mechanical ventilation.