Michael Grunebaum

Ectopic thyroid gland. A clinical study of 30 children and review.

Of 108 children being treated at our Institute for primary (nongoitrous) hypothyroidism, tests with radioactive iodine 131I uptake showed that 26 of them (24%) had an ectopic thyroid gland. Four euthyroid children also had anterior swellings of the neck which, in each case, proved to be an ectopic thyroid gland. Of the 30 children studied, 20 were girls and 10 were boys. Nine patients were diagnosed within the first year of life. Growth retardation, manifest in 20 patients, was the most common clinical finding at the time of diagnosis. Delayed bone age was a feature in all of them. Growth, after diagnosis was within normal limits in 83% of the infants who were treated within the first two years of life; only 50% of the children diagnosed later grew within normal limits. Similarly, mental function was best preserved in those patients in whom treatment was initiated within the first two years of life.

Central precocious puberty: Evaluation by neuroimaging

To evaluate the incidence of abnormal intracranial findings in children with central precocious puberty, 62 children (51 girls, 11 boys) were examined by computerized tomography and/or magnetic resonance imaging (MRI) of the brain. Forty-four had normal examinations; 18 (11 girls, 7 boys) showed intracranial pathologies, including hamartoma of the tuber cinereum (8 cases), parenchymal loss (3 cases), hypothalamicchiasmatic lesions (2 cases), lesions of the corpus callosum (2 cases), suprasellar cyst (1 case), and pineal cyst and mesiotemporal sclerosis (1 case each). Based on the correlation between the clinical and the imaging results of this series, the authors recommend MRI as the imaging method of choice in the investigation of precocious puberty.

The radiographic manifestations of bone changes in copper deficiency.

The bone changes in infants with copper deficiency are typified by osteopenia and the symmetrical appearance of sickle-shaped metaphyseal spurs. Four examples are demonstrated and the differential diagnosis is extensively discussed.

Definitive diagnosis of fracture-separation of the distal humeral epiphysis in neonates by ultrasonography

Fracture-separation of the distal humeral epiphysis in neonates is difficult to diagnose radiologically because the cartilaginous epiphysis is radiolucent. We report a case in which fracture-separation of the distal humeral epiphysis in a neonate was diagnosed with the help of ultrasonography, which provided a clear delineation of the injury.

Iron overload following bone marrow transplantation in children : MR findings

Objective. The purpose of this study was to determine the incidence of post-transfusional iron overload in children after bone marrow transplantation by reviewing their magnetic resonance imaging (MR) findings. Materials and methods. We reviewed the abdominal MR studies of 13 children after autologous bone marrow transplantation. Nine of the children had also undergone MR prior to transplantation. Iron deposition in the liver, spleen and bone marrow was graded semi-quantitatively on both T1- and T2-weighted images. Serum ferritin levels and number of blood units given after bone marrow transplantation were recorded. Results. None of the pre-transplantation MR studies revealed iron overload. After bone marrow transplantation, three children showed normal liver and spleen. Iron overload in the liver was noted in ten patients (77 %), six of whom also showed iron overload in the spleen (46 %) and five in the bone marrow (38.5 %). The degree of hepatic iron overload was correlated significantly and splenic iron overload was correlated weakly with the number of blood transfusions (P = 0.01 and P > 0.01, respectively), but neither was correlated with the serum ferritin level. Conclusion. Iron overload commonly accompanies bone marrow transplantation. The observed pattern of iron deposition, in which the spleen was uninvolved in 40 % of patients demonstrating iron overload, is not typical of post-transfusional hemochromatosis.

Osteopathia striata, cranial sclerosis with cleft palate and facial nerve palsy

Osteopathia striata (OS) is a rare bone dysplasia characterized by longitudinal sclerotic striations of the long bones. It is of no clinical importance, but OS associated with cranial sclerosis represents a separate entity with a high incidence of palatine malformations and deafness. Only 19 cases of this entity have been reported in the literature. One patient of this series also had facial nerve paralysis. This paper presents a second case of OS, cranial sclerosis, palatine pathology and recurrent facial nerve paralysis. This incidence of 2/20 (10%) does not seem to be coincidental but raises the possibility that facial nerve palsy is one of the clinical manifestations of this specific bone abnormality.

Copper deficiency in infants fed cow milk

NUTRITIONAL COPPER DEFICIENCY in infancy has been observed by Tanaka et al. ~ in a premature baby fed milk formula low in copper. Copper deficiency has also been reported in infants given total parenteral nutrition w i thou t copper supplementation in cases of severe diarrhea, malabsorption, protein loss, or the use of chelating agents. 2-5 Copper deficiency may cause anemia and other subtle symptoms that may go undiagnosed but resolve with diet enrichment. We describe two infants with copper deficiency, and draw attention to the similarities between our patients and those of Tanaka.

The enigma of stress fractures in the pediatric age: Clarification or confusion through the new imaging modalities

Cortical thickening and/or periosteal reaction in long bones of children and adolescents continue to present a diagnostic difficulty for the pediatric radiologist. A history of physical activity points to the possibility of stress fracture, nevertheless bone malignancy or chronic inflammatory changes have to be excluded. The MRI findings in recent cases of stress fractures were confusing. An extensive metadiaphyseal abnormal signal from the medullary cavity was observed. Only the meticulous correlation between the various imaging modalities established the correct diagnosis.Stress fractures can occur in a normal bone that is subjected to repeated trauma, with the strain being less than that which causes an acute fracture. Localized pain is the presenting symptom [1]. This kind of fracture is encountered in adolescents who are often involved in competitive physical exercise.The conventional radiographic examination shows the evidence of the fracture repair rather than the fracture itself: localized periosteal reaction and endosteal thickening. A radiolucent cortical fracture-line is usually not demonstrated [2]. The radiologic appearance can be problematic in the pediatric age and necessitates differentiation from osteomyelitis or bone malignancy.The diagnostic investigation includes multidirectional bone radiographs, Tcm99 polyphosphate bone scientigraphy [3] and computerized tomography [4]. Recently MRI has been added to the diagnostic armamentarium.This paper presents the experience gained in the diagnosis of pediatric stress fractures which were investigated and followed up by MRI. It was found that this modality did not contribute to the establishment of the final diagnosis of stress fracture.

Retarded skeletal maturation in children with primary enuresis

Primary nocturnal enuresis (PNE) is a common paediatric problem of multifactorial aetiology. Growth and skeletal maturation were studied in 35 otherwise healthy children with PNE, 26 boys and 9 girls aged 6–14 years, and comparison was made with a control (CTR) group of 19 boys and 3 girls aged 6–13 years of similar ethnic origin. There was no significant difference between the mean height and weight centiles of the two groups. Bone age (BA) determined by the TW-2 method showed a significant lag behind chronological age (CA); the CA-BA difference being 1.46±1.56 years in the PNE group and -0.08±0.8 years in the CTR group (P<0.001). In 11 of the PNE group (31%) the BA retardation was greater than 24 months: in 4 it was between 24 to 36 months and in 7 the difference was greather than 36 months. In all these children T4 and TSH were found to be normal.It is hypothesised that the retarded bone age in children with PNE may reflect delayed maturation of regulatory CNS functions.

Neuroblastoma : evaluation with contrast enhanced MR imaging

The use of GD-DTPA was introduced recently for MR imaging of the body. This paper presents our experience with GD-DTPA enhanced MRI in the evaluation of neuroblastoma in children. The characteristics of the tumor-enhancement are described, its contribution to the diagnosis and the follow-up of this disease are discussed.