Distal limb anomalies in patients with congenital dyserythropoietic anemia.

The congenital dyserythropoietic anemias (CDAs) are a group of rare genetic disorders characterized by ineffective erythropoiesis and the development of secondary hemochromatosis. Distal limb anomalies are a well-documented though rare feature of congenital dyserythropoietic anemia type I, that have not been reported so far in other types. We describe a patient with congenital dyserythropoietic anemia type II and four members of a family with clinical features of congenital dyserythropoietic anemia type III with distal limb anomalies. The patient with congenital dyserythropoietic anemia type II presented with bilateral complete osseous syndactyly of the hands, and bilateral complete cutaneous syndactyly of feet. Three of the four affected family members with congenital dyserythropoietic anemia type III had partial absence of fingers, small or absent nails, overlapping toes, and short metatarsals. We suggest that similar to congenital dyserythropoietic anemia type I, distal anomalies may appear in some patients with congenital dyserythropoietic anemia types II and III. Patients presenting with anemia and distal limb anomalies should be further investigated for the presence of congenital dyserythropoietic anemia. © 2016 Wiley Periodicals, Inc.

A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutation.

Aicardi-Goutières syndrome is a genetic neurodegenerative disorder with clinical symptoms mimicking a congenital viral infection. Mutations in 6 genes are known to cause the disease: 3 prime repair exonuclease1, ribonucleases H2A, B, and C, SAM domain and HD domain 1, and most recently ADAR1. HD domain 1 mutations were previously reported in the Ashkenazi-Jewish community. We report an additional patient of Ashkenazi-Jewish descent and review the other 3 cases affected with Aicardi-Goutières syndrome due to SAM domain and HD domain 1 (SAMHD1) mutations described in Israel. We propose that there may be a phenotypic-genotypic correlation in accordance with the type of mutations inherited in the SAMHD1 genotype and suggest that Aicardi-Goutières syndrome may not be a rare disease in the Ashkenazi-Jewish population.

Congenital pyriform aperture stenosis.

Nasal airway obstruction is a potentially life-threatening condition in the newborn. Neonates are obligatory nasal breathers. The pyriform aperture is the narrowest, most anterior bony portion of the nasal airway, and a decrease in its cross-sectional area will significantly increase nasal airway resistance. Congenital nasal pyriform aperture stenosis (CNPAS) is a rare, unusual form of nasal obstruction. It should be considered in the differential diagnosis of any neonate or infant with signs and symptoms of upper airway compromise. It is important to differentiate this level of obstruction from the more common posterior choanal stenosis or atresia. CNPAS presents with symptoms of nasal airway obstruction, which are often characterized by episodic apnea and cyclical cyanosis.

Ultrasonographic and clinical parameters for early differentiation between precocious puberty and premature thelarche.

OBJECTIVE: To determine if uterine and ovarian measurements can significantly distinguish between precocious puberty (PP) and premature thelarche (PT) and whether ultrasound has any advantage over the gonadotropin-releasing hormone (GnRH) stimulation test. DESIGN: Prospective. METHODS: One hundred and three girls referred consecutively for evaluation of breast budding before age 8 years underwent physical examination, GnRH stimulation test, bone age assessment, and transabdominal pelvic ultrasound. The diagnosis of PP or PT was based on clinical judgment. The clinical, laboratory, and ultrasound data of the PP and PT groups were compared. RESULTS: Eighty-one girls were diagnosed with PP and 22 with PT. Significant differences in most of the uterine and ovarian measurements were found between the groups. On logistic regression analysis, bone age standard deviation score, uterine transverse diameter, and uterine volume were the most significant variables predicting PP. Comparison of 30 girls with PP and 21 with PT in whom peak luteinizing hormone was <5 mIU/ml on the GnRH stimulation test, using analysis of variance, yielded significant differences in uterine width (P<0.001), fundus diameter (P <0.04), uterine volume (P= 0.006), and ovarian circumference (P <0.02). CONCLUSIONS: Increased uterine and ovarian measurements may be an early and sensitive sign of PP. Pelvic ultrasound, a noninvasive, inexpensive, and reliable tool, may give the clinician a complementary indication to the GnRH test in distinguishing isolated PT from early-stage PP in girls with early breast budding.

Thiamine deficiency in infants: MR findings in the brain.

BACKGROUND AND PURPOSE: Thiamine deficiency is extremely rare in infants in developed countries. To our knowledge, its MR findings in the brain have not been reported. The purpose of this study was to investigate the brain MR findings in infants with encephalopathy due to thiamine deficiency. METHODS: The study group included six infants aged 2-10 months with encephalopathy who had been fed with solely soy-based formula devoid of thiamine from birth. All underwent MR evaluation at admission and follow-up (total of 14 examinations). In one patient, MR spectroscopy (MRS) was performed. RESULTS: In five patients T2-weighted, fluid-attenuated inversion recovery, or proton-attenuated sequences showed bilateral and symmetric hyperintensity in the periaqueductal area, basal ganglia and thalami. Five had lesions in the mammillary bodies, and three, in the brain stem. In all six patients, the frontal region (cortex and white matter) was clearly involved. At presentation, MRS of the periaqueductal area showed a lactate doublet. On long-term follow-up, three of four patients had severe frontal damage; in two, this occurred as part of diffuse parenchymal loss, and in one, it was accompanied by atrophy of the basal ganglia and thalami. CONCLUSION: Thiamine deficiency in infants is characterized by involvement of the frontal lobes and basal ganglia, in addition to the lesions in the periaqueductal region, thalami, and the mammillary bodies described in adults. MRS demonstrates a characteristic lactate peak.

Role of MRI in the management of children with diffuse pontine tumors: a study of 15 patients and review of the literature.

BACKGROUND: Pontine tumors carry the worst prognosis of all brain tumors. In most cases, the diagnosis is based solely on MR imaging, without biopsy. OBJECTIVE: To describe the MR findings of pontine tumors at diagnosis and during follow-up and correlate those with prognosis and to assess the value of MR imaging in patient management compared to clinical evaluation. MATERIALS AND METHODS: Ninety-one MR scans of 15 children with diffuse pontine tumors were reviewed at diagnosis and during follow-up. The parameters analyzed were as follows: tumor extent, area, and volume; encasement of the basilar artery; presence of exophytic component; necrosis; cysts; hydrocephalus; and intensity and enhancement. Findings were correlated to length of progression-free and overall survival. Trends of amelioration or worsening on imaging were compared with the clinical findings. RESULTS: Median length of progression-free survival was 10 months, and median survival was 20 months. Only hydrocephalus at presentation was associated with shorter progression-free survival (P=0.02). On the last examination of each patient, the craniocaudal diameter was significantly greater than at diagnosis (P=0.03). The concordance between the imaging and the clinical findings was good. CONCLUSION: MR is the mainstay for the diagnosis and management of pontine tumors. Cranial growth seems to be an ominous sign. However, the prognostic value of MR is limited. MR findings correlate well with the clinical examination.

Pulmonary inflammatory myofibroblastic tumor invading the left atrium.

Inflammatory myofibroblastic tumor is a rare solid tumor that most often affects children and young adults. Although benign, the tumor may be very aggressive locally. We describe a 9-year-old boy with primary inflammatory myofibroblastic tumor of the left upper lobe involving the left atrium.

Brachyolmia and spinal stenosis.

Brachyolmia is a rare short-trunk short stature skeletal dysplasia characterized by generalized platyspondyly without significant epiphyseal or metaphyseal changes in the long bones. This group of skeletal dysplasia is heterogeneous and four types have been differentiated on the basis of radiological and genetic findings. We report on two siblings with Hobaek-type brachyolmia complicated by spinal stenosis. This combination has never been reported in the literature and suggests further genetic heterogeneity within brachyolmia.

New variant of acro-renal field defect.

We describe two patients with a new variant of acro-renal field defect. The first was a full-term, small-for-gestational-age female infant who showed preaxial polydactyly of the right hand and horseshoe kidney on abdominal ultrasonographic examination. In addition, there was a single umbilical artery and some mild facial errors of morphogenesis. The second patient, a full-term male infant, had horseshoe kidney and left hand ectrodactyly. Various renal abnormalities have been described in the literature, but there are no reports on horseshoe kidney as part of acro-renal field defect. We suggest that acro-renal field defect should not be regarded as a definitive diagnosis, but only as a starting point for the search for various conditions.

Pituitary size in patients with Laron syndrome (primary GH insensitivity).

OBJECTIVE: The purpose of the present study was to investigate whether lifelong secretion of high levels of GH, characteristic of Laron syndrome, leads to an increase in the size of the pituitary gland. METHODS: Eleven patients (six females, five males) with Laron syndrome underwent magnetic resonance imaging of the pituitary region with a system operating at 0.5 T. There were nine adults aged 36-68 Years and two children, a 4-Year-old boy and a 9-Year-old girl. The latter patient had been treated with IGF-I (150-180 mg/kg per day) since the age of 3 Years; all the other patients were untreated. The height of the adenohypophysis was measured on the sagittal images and compared with reference values for age and sex. RESULTS: The height of the adenohypophysis was within the normal range for age and gender in all patients, except for one male, who had a small gland. No congenital anomalies of the pituitary-hypothalamic region were detected. CONCLUSION: Despite the lifelong high levels of GH, no pituitary hypertrophy was detected. The anatomy of the pituitary-hypothalamic region in Laron syndrome is normal.

Neuroimaging findings in neonates and infants from superior vena cava obstruction after cardiac operation.

BACKGROUND: Extraventricular obstructive hydrocephalus may develop after superior vena cava obstruction, an uncommon complication after cardiac surgery. OBJECTIVE: To describe the neuroimaging findings in neonates and infants with superior vena cava thrombosis after cardiac surgery for congenital heart disease. MATERIALS AND METHODS: Between 1993 and 2001, 333 neonates and infants in our hospital underwent cardiac surgery, of whom 13 (3.9%) subsequently acquired superior vena cava syndrome. Eleven of these 13 children (7 boys, 4 girls) were evaluated by head ultrasound and computed tomography scans. RESULTS: One child had normal findings on head ultrasound, and 10 children had extraventricular obstructive hydrocephalus (EVOH). In 6 children, aggravation of the hydrocephalus was noted up to 11.4 months after cardiac surgery; in 3 of them, the hydrocephalus was shunted to the peritoneum. One child had thrombosis of the dural sinuses, and 1 had hemorrhagic infarction. Two children died during follow-up. CONCLUSION: EVOH is a common complication of superior vena cava thrombosis, and head ultrasound should be performed in all neonates and infants with superior vena cava thrombosis after cardiac surgery. Long-term follow-up is needed, as the hydrocephalus may worsen even months after surgery.

Clinical presentation of wandering spleen.

BACKGROUND: Wandering spleen (WS) is an uncommon condition with a variety of clinical presentations. METHODS: The medical files of 5 children who underwent operation for WS in the authors' department during the period 1996 through 2000 were retrospectively reviewed. RESULTS: Splenic salvage procedures (retroperitoneal splenopexy) were performed in 4 patients. One patient underwent splenectomy because of splenic necrosis. CONCLUSIONS: Early diagnosis and surgical treatment is mandatory to prevent complications. Every effort should be made to preserve the spleen, especially among the pediatric population, and splenopexy is the procedure of choice even in the asymptomatic patient.

Laron syndrome abnormalities: spinal stenosis, os odontoideum, degenerative changes of the atlanto-odontoid joint, and small oropharynx.

BACKGROUND AND PURPOSE: Patients with Laron syndrome have an inborn growth hormone resistance. We investigated abnormalities in the upper airways and cervical spine in patients with Laron syndrome. METHODS: We prospectively examined 11 patients (one child aged 9 years and 10 adults aged 36-68 years), 10 of whom underwent MR imaging of the spine or head; nine, radiography of the cervical spine; and four, CT of C1-C2. The width of the spinal canal was evaluated visually and quantitatively and compared with reference values. The smallest diameter of the oropharynx and the thickness of the palate were measured and compared with reference values. Nine age-matched female patients referred for MR imaging for unrelated reasons served as control subjects. RESULTS: Cervical spinal stenosis was present in seven of the adult patients, within a confidence interval of 95%. Anomaly of the dens compatible with os odontoideum was present in three patients, causing focal myelomalacia in two. The atlanto-odontoid joint showed osteoarthritic changes in six of the adult patients. The mediolateral diameter of the oropharynx was significantly smaller in the patients with Laron syndrome than in the control subjects (P <.005). There was no difference in the thickness of the soft palate. CONCLUSION: Patients with Laron syndrome develop significant narrowing of the cervical spinal canal and early degenerative changes of the atlanto-odontoid joint. Laron syndrome is associated with os odontoideum causing myelomalacia. The dimensions of the oropharynx are small. Patients may be prone to neurologic morbidity and sleep disturbances. Routine MR imaging of the cervical spine is recommended in these patients.

Colonic stricture secondary to torsion of an ovarian cyst.

Intestinal obstruction in the newborn is a potentially life-threatening complication. The most common causes are meconium plug, meconium ileus, intestinal atresia, intestinal malrotation, and Hirschprung's disease. We present an unusual case of intestinal obstruction caused by torsion of an ovarian cyst. The left fimbria and ovary swirled around the sigmoid colon, causing colonic stricture.

Childhood abdominal cystic lymphangioma.

BACKGROUND: Abdominal lymphangioma is a rare benign congenital malformation of the mesenteric and/or retroperitoneal lymphatics. Clinical presentation is variable and may be misleading; therefore, complex imaging studies are necessary in the evaluation of this condition. US and CT have a major role in the correct preoperative diagnosis and provide important information regarding location, size, adjacent organ involvement, and expected complications. OBJECTIVE: To evaluate the clinical and imaging findings of seven children with proven abdominal cystic lymphangioma. MATERIALS AND METHODS: Clinical and imaging files of seven children with pathologically proven abdominal lymphangioma, from three university hospitals, were retrospectively evaluated. Patient's ages ranged from 1 day to 6 years (mean, 2.2 years). Symptoms and signs included evidence of inflammation, abnormal prenatal US findings, chronic abdominal pain, haemorrhage following trauma, clinical signs of intestinal obstruction, and abdominal distension with lower extremities lymphoedema. Plain films of five patients, US of six patients and CT of five patients were reviewed. Sequential imaging examinations were available in two cases. RESULTS: Abdominal plain films showed displacement of bowel loops by a soft tissue mass in five of six patients, two of them with dilatation of small bowel loops. US revealed an abdominal multiloculated septated cystic mass in five of six cases and a single pelvic cyst in one which changed in appearance over 2 months. Ascites was present in three cases. CT demonstrated a septated cystic mass of variable sizes in all available five cases. Sequential US and CT examinations in two patients showed progressive enlargement of the masses, increase of fluid echogenicity, and thickening of walls or septa in both cases, with multiplication of septa in one case. At surgery, mesenteric lymphangioma was found in five patients and retroperitoneal lymphangioma in the other two. CONCLUSIONS: US and CT are highly sensitive in the diagnosis of abdominal lymphangioma. Our limited experience with follow-up examinations in two patients suggests that progressive enlargement, multiplication and thickening of septa and increased echogenicity of the cystic fluid are signs indicating complications demanding urgent treatment.