Optic nerve shadow enlargement in the Klippel-Trenaunay-Weber syndrome

A 10-year-old girl with Klippel-Trenaunay-Weber syndrome (KTWS) showed neuroradiologic signs of enlarged optic nerve and medial rectus shadows. In 3 years of follow-up, her vision has remained normal. This is the first report of optic nerve enlargement in this syndrome. The case demonstrates that enlargement of the optic nerve shadows is not inevitably associated with visual deterioration. Optic nerve enlargement may be part of a hamartomatous process that involves other orbital contents.     

Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period

We describe 5 patients who presented with musculoskeletal abnormalities in the neonatal period. All patients were initially suspected to have Larsen syndrome or Beals syndrome but were subsequently diagnosed with a TGFBR2 mutation diagnostic of Loeys-Dietz syndrome. Patients had progressive aortic enlargement, which necessitated surgical intervention for 3 patients and resulted in the death of 1 patient. Delay in diagnosis of Loeys-Dietz syndrome may be associated with adverse prognosis.     

Characteristics of hormonal homeostasis in children with thymus enlargement syndrome

Hormonal homeostasis was examined in 104 children aged 1 to 14 years with thymus enlargement. There was a significant growth of somatotropic hormone in children of the first 3 years of life, characterized by thyroid dysfunction and hypofunction increase with age, by a tendency towards ACTH and hydrocortisone lowering under 6 years of age, and a significant decrease of those parameters in children over 6 years. The children with thymus enlargement also showed other disorders of hormonal homeostasis.     

Anti-measles humoral immunity in children with thymus hyperplasia

Analysis is made of the data obtained during clinical studies of the vaccinal process in 54 children with grades I-II thymus enlargement, vaccinated against measles. The clinical course of the vaccinal process in these children does not differ from the common course in normal children vaccinated against measles. The children with grades I-II thymus enlargement are capable of producing humoral antiviral immunity and of preserving high titres of antiviral antibodies for a long time.     

Acceleration of postnatal development, hypertony, enlargement of the middle phalanges and of the distal metaphyses of the femur, peculiar facies: a case of Weaver's syndrome?

A child is described with accelerated bone maturation, large dysplastic ears, and hypertelorism. These are features of both the Marshall-Smith and Weaver's syndrome. The child was mentally retarded and had enlargement of the middle phalanges, features only seen in Marshall-Smith syndrome. However, there was also enlargement of the metaphyses, a characteristic of Weaver's syndrome. The possiblity that these syndromes may represent different manifestations of the same entity is discussed.     

The grade of acute thymus involution in neonates correlates with the duration of acute illness and with the percentage of lymphocytes in peripheral blood smear. Pathological study

In various stressful conditions, the thymus is subjected to incidental involution, mostly due to the thymocytolytic effect of secreted glucocorticosteroids. The aim of this study was to examine acute thymic involution in sick neonates and to compare the morphological grade with some clinical and laboratory parameters. The influence of the illness on thymus tissue was investigated in 100 neonates who were treated and died in a neonatology intensive care unit. The preterm infants (n = 73) were born before the 37th week of gestation. Analysis of 57 placentas showed inflammation in 32% and circulatory disturbances in 23% of the cases. The causes of death were confirmed by autopsy: 35 were preterm infants with respiratory distress syndrome without infection, 22 were malformed, and 10 had birth trauma or asphyxia. In contrast, 29 of the preterm infants had an infection, mostly pneumonia or sepsis, and 4 of the term infants had such infections. Acute thymus involution was histologically graded (0-4) according to the method of van Baarlen (see text). Resting state (grade 0) was found in 25 of 38 neonates who lived <12 h. In 13 of 38 neonates who lived <12 h, thymus involution suggested prenatal stress. The grade of thymus involution related to the duration of illness (p < 0.001). Placental inflammation was associated with features of thymus involution (p < 0.048). Infection as a cause of death was connected to advanced thymus involution (p < 0.001). In preterm newborns, infection was more often connected with acute thymus involution than was respiratory distress syndrome (p < 0.003). Among the parameters measured in all available peripheral blood samples taken 24 h before death, only the lymphocyte count related to the grade of acute thymus involution (p < 0.05), with an increase in percentage of lymphocytes in peripheral blood smears from grade 0 to 2 and a decrease from grade 2 to 4. Although the white blood cell count is highly variable, a low percentage of lymphocytes might be a sign of advanced accidental thymus involution following acute stress.     

Respiratory distress in a neonate with an enlarged thymus

 Thymic hyperplasia, although not a rare condition in infancy, is usually asymptomatic. We describe an infant presenting in the perinatal period with marked tachypnoea. An enlarged thymus, demonstrated on chest radiograph and CT, was associated with small-volume, non-compliant lungs. Other causes of pulmonary malfunction and maldevelopment were excluded. Conclusion Thymic enlargement is unusually associated with neonatal respiratory distress but should be considered in the differential diagnosis. Received: 9 March 1999 and in revised form: 7 July 1999 / Accepted: 31 August 1999     

Enlargement of the membranous ventricular septum: an internal stigma of Down's syndrome

A study of heart specimens without ventricular septal defect from patients with down's syndrome showed a significant enlargement of the membranous ventricular septum as compared to the normal heart. This increase in area of the ventricular septum occupied by membranous tissue from 2 to 9% may not only predispose patients with Down's syndrome to congenital heart disease, but may be one end of a spectrum of cardiac anomalies related to malalignment or maldevelopment of the ventricular septum in Down's syndrome.     

Thymic and parathyroid agenesia (DiGeorge's syndrome). Apropos of a case with abnormal vena caval return]

A child with a complete absence of thymus and parathyroids (Di George's syndrome) associated with a cardiac malformation (truncus arteriosus and abnormal caval venous return) is described ; the child died at the age of 1 month. An exchange-transfusion, performed at 4 days of age induced a mild graft versus host reaction which could only be recognized histologically and distorted the results of immunological tests. On this occasion, the main clinical, anatomical and immunological features of the Di George's syndrome are reviewed. They suggest a possible relationship between the severity of the cardiac malformation and the more or less complete character of the dysgenesia of the thymus and the parathyroids.     

Inspiratory stridor and dysphagia in two newborn infants caused by ectopic thymus tissue

We report two cases of ectopic cervical thymus, a solid thymic lesion, and a thymus cyst causing inspiratory stridor and mild dysphagia in the neonatal period. Because of the rarity of thymic dystopia, the two masses were initially misdiagnosed as more common entities, namely, lymph node enlargement and lymphangioma, respectively. The correct diagnosis was made only after surgical excision and histopathological examination. This case report is completed by a short review of embryogenic development, diagnostic procedures with differential diagnoses, and therapeutic outcome of ectopic thymus.     

Beckwith-Wiedemann Syndrome with Unusual Hepatic and Pancreatic Features: A Case Expanding the Phenotype

We describe an infant with Beckwith-Wiedemann syndrome (BWS) who had hepatic and pancreatic findings not previously described in BWS. These were biliary dysgenesis and enlargement and cystic dysplasia of the pancreas. The biliary dysgenesis was characterized by proliferation of abnormally shaped ducts in the portal tracts. Massive enlargement and cystic dysplasia of the pancreas was associated with ductular proliferation, virtual absence of normal exocrine tissue, and an increase in endocrine tissue.     

Beckwith-Wiedemann syndrome with unusual hepatic and pancreatic features: a case expanding the phenotype

We describe an infant with Beckwith-Wiedemann syndrome (BWS) who had hepatic and pancreatic findings not previously described in BWS. These were biliary dysgenesis and enlargement and cystic dysplasia of the pancreas. The biliary dysgenesis was characterized by proliferation of abnormally shaped ducts in the portal tracts. Massive enlargement and cystic dysplasia of the pancreas was associated with ductular proliferation, virtual absence of normal exocrine tissue, and an increase in endocrine tissue.     

Two patients with Kabuki syndrome presenting with endocrine problems

A 4 year-old boy with mental retardation and seizures presented to the pediatric endocrinology clinic because of a history of hypoglycemia; a 16 month-old girl with developmental delay presented with bilateral breast tissue enlargement; in both, a diagnosis of Kabuki syndrome was made because of typical facial features, neurodevelopmental delay and other stigmata consistent with Kabuki syndrome. Kabuki syndrome is a mental retardation-malformation syndrome affecting multiple organ systems with a broad spectrum of abnormalities. The facial features of the syndrome are specific and independent of ethnic origin. In addition to presenting with endocrine problems, the patients reported here exhibit some novel findings such as congenital alopecia areata and hyperpigmented skin lesion. The diagnosis of Kabuki syndrome should be considered in patients with hypoglycemia or premature thelarche when associated with developmental delay and a peculiar facies.     

Clinical presentation of McCune-Albright syndrome in males

The aims of this study were: (a) to survey gender prevalence and clinical findings at diagnosis in a series of patients who manifested at the time of this study the classical triad of McCune-Albright syndrome (MAS); (b) to investigate whether clinical presentation of MAS in boys may be different from that in girls; (c) to confirm whether boys with MAS may show a peculiar picture of testicular microlithiasis (TM) by testicular ultrasonography (US). Twenty-six patients (10 boys) with the classical clinical manifestations of MAS were recruited for the present study from the database of the Italian Multicenter Study Group on MAS. Age at diagnosis of MAS was significantly lower in girls than in boys (p < 0.025). Whilst there was no difference in the prevalence of skin and bone fibrous dysplasia for the two groups, a significantly higher prevalence of peripheral precocious puberty (PPP) was found in girls (chi2 = 6.5, p < 0.025). Moreover, PPP onset was earlier in females than in males (2.8 +/- 2.3 vs. 6.9 +/- 2.7 years, p < 0.005). In one boy, aged 2.9 years, the first clinical manifestation of MAS was monolateral testicular enlargement in the context of a picture of classical PPP. US scanning of the testes, at the time of the present study, showed bilateral hyperechogeneic multiple spots, compatible with diagnosis of TM, in 6/10 boys. CONCLUSIONS: (a) MAS is slightly more frequent in females. (b) PPP in MAS is significantly more frequent and earlier in girls. (c) PPP in boys with MAS is generally associated with bilateral testicular enlargement, but monolateral macroorchidism may also be seen. (d) TM may be another marker for MAS in males.     

Acute traumatic compartment syndrome of the foot in children

Acute traumatic compartment syndrome of the foot is a sequelae of serious injury to the foot, which, if unrecognized, may result in significant motor and sensory deficits, pain, stiffness, and deformity. It is nearly always associated with fractures, dislocations, and crush injuries to the foot. Vascular injuries and coagulopathic states are also risk factors for the development of an acute foot compartment syndrome. In children, the presentation of an acute foot compartment syndrome may be masked by the pain and edema caused by associated fractures and dislocations. A high index of suspicion is warranted in children presenting with foot injuries that are associated with foot compartment syndrome. Recognition of the signs and symptoms of compartment syndrome in the emergency room are paramount; the diagnosis is best confirmed by multiple compartment pressure readings. The urgency of diagnosis of a compartment syndrome must be underscored, as the complications of a missed foot compartment syndrome includes contractures, claw toe deformity, sensory loss, stiffness, and chronic pain. Prompt orthopaedic consultation is mandatory; urgent compartment fasciotomies are associated with a good clinical outcome.     

Case report: maldescent of the thymus in a hypoparathyroid infant with Pharyngeal Pouch Syndrome.

The clinical and pathological findings in a 6-month-old boy with III-IV pharyngeal puoch syndrome are reported. The infant had multiple congenital anomalies including absence of the parathyroid glands, maldescent of the thymus, aberrant right subclavian artery and dysfunction of the glossopharyngeal nerve. Because of persistence of the thymus in the cervical area, a thymic shadow was not found on roentgenographic examination of the anterior mediastinum. The weight and histology of the thymus were normal, as were studies of humoral and cellular immunity.     

Normal thymus simulating pericardial disease: diagnostic value of magnetic resonance imaging.

Normal enlargement of the thymus in infancy can often lead to erroneous clinical suspicion of cardiomegaly. Roentgenographic differentiation is not always definitive but echocardiography is generally effective in differentiating cardiac pathology from an enlarged thymus. In this patient, magnetic resonance imaging was necessary to differentiate benign thymic hyperplasia from pericardial or mediastinal pathology. Thymic involution with a severe neonatal illness, followed by thymic rebound, which later subsided, added to the interest and initial confusion in this patient.     

Thymus size at birth is associated with infant mortality: a community study from Guinea-Bissau

A few studies have suggested that thymus atrophy is associated with severe malnutrition and increased morbidity; however, no study of thymus size has been undertaken in countries with high mortality. This study examined the relation between thymus size at birth and subsequent mortality in an urban West African community. The size of the thymus was assessed by sonography as a volume estimate, the thymus index. A total of 278 children born at the local health centre in Bandim in Bissau, Guinea-Bissau, was enrolled in the study. Children were followed to the age of 2 y. Thymus size at birth was associated with most strongly weight, as well as with length and arm circumference. Controlling for weight and other risk factors, boys had larger thymus indices than girls [means ratio (MR) = 1.07, 95% confidence interval (95% CI) 1.01-1.14)]. Thymus size was also associated with prematurity, ethnic group, season and investigator, but not with birth order, mother's age, socioeconomic factors or the use of health services. Infant mortality was 117/1000. In a multivariate analysis, excluding premature infants and adjusting for age, gender, ethnic group, season of birth and investigator, higher birthweight (MR = 0.35, 95% CI 0.16-0.74) and larger thymus size (MR = 0.17, 95% CI 0.06-0.48) were independently associated with lower infant mortality. When both indices were estimated in the same model, the thymus index was associated with infant mortality (MR = 0.27, 95% CI 0.07-1.00), whereas birthweight had a non-significant effect (MR = 0.59, 95% CI 0.24-1.47). After 1 y of age neither birthweight nor thymus size at birth was associated with mortality. Conclusion : As all deaths were due to infectious diseases, thymus size at birth may be an important predictor of immune competence. Future studies should examine the determinants of thymus growth.     

Left atrial size in children with hypertension: the influence of obesity,blood pressure,and left ventricular mass

OBJECTIVE: To evaluate the prevalence of left atrial enlargement and the correlates of left atrial size in children and adolescents with essential hypertension. BACKGROUND: Left atrial enlargement has been associated with increased risk of cardiovascular disease, including stroke in adults. Risk factors for left atrial size in adults with hypertension include age, race, and obesity. METHODS AND RESULTS: Patients (n =112; average age, 14.2 years) with essential hypertension were studied with echocardiography. The average left atrial dimension was 2.8 (+/- 0.5) cm; 51% patients had left atrial dimension >95% upper confidence limit. The patients with left atrial enlargement had greater body mass index (P <.05) than those without left atrial enlargement. In multiple regression analysis, height, body mass index, systolic blood pressure, and left ventricular geometry were significant independent correlates of left atrial size. Children with eccentric left ventricular hypertrophy were more likely to have a larger left atrial dimension. CONCLUSIONS: Left atrial enlargement is prevalent in children and adolescents with essential hypertension. This may indicate an increased risk of cardiovascular disease morbidity and mortality. Control of obesity and blood pressure elevation offer two approaches for treatment that may prevent left atrial enlargement.     

Aberrant cervical thymus mimicking a cervical mass

A case of a 9-year-old female with suprasternal extension of the thymus mimicking thyroid gland enlargement is described. Ultrasonography successfully established the diagnosis. Aberrant cervical thymic tissue is an infrequently reported cause of paediatric neck masses. It is important to be aware of this entity to prevent anxiety and inappropriate investigation and/or intervention.