C. Garel

Laryngeal ultrasonography in infants and children: a new way of investigating. Normal and pathological findings

Ultrasound of the larynx appears as a new way of imaging the larynx in infants and children. The normal sonographic anatomy is briefly described. The pathological findings of this method, its advantages and its drawbacks are discussed. It appears to be a very interesting method for functional disorders and space-occupying lesions.

Thickened Pituitary Stalk on Magnetic Resonance Imaging in Children with Central Diabetes insipidus

Magnetic resonance imaging (MRI) has revealed isolated pituitary stalk thickening (PST) in certain cases of idiopathic or secondary central diabetes insipidus (DI) due to infiltrative processes. Twenty-six children with DI and PST underwent cerebral MRI at the age of 8 ± 4 years and were followed (n = 25) by clinical and MRI evaluation for 5.5 ± 3.6 and 3.0 ± 2 years, respectively, but given no treatment other than hormonal substitutive therapy. Patients were subdivided into groups according to the etiology of the DI: germinoma (n = 4), Langerhans’ histiocytosis (n = 5) or ‘idiopathic’ DI with PST (n = 17). Complete anterior pituitary evaluation in 24 of the 26 patients revealed that 14 children were suffering from associated growth hormone deficiency and 7 had multiple hormone deficiencies. At the first MRI evaluation, pituitary stalk enlargement varied from 2.2 to 9.0 mm. The anterior pituitary gland was found to be normal (n = 12), small (n = 8) or enlarged (n = 6). At the final evaluation, a change in MRI features had occurred in 16 patients: morphological and/or signal changes in the PST (n = 16; 6 of whom showed an increase in PST) and changes in anterior pituitary gland size (n = 8; 3 of whom had increased and 5 had decreased). The presence of a growing suprasellar mass with a progressively enlarging pituitary stalk was demonstrated in the 6 patients who had shown increased pituitary stalk enlargement 1.8 ± 1.6 years after the first MRI. In 4 of these patients, a diagnosis of germinoma was made 1.3 ± 0.6 years after PST identification by MRI at the onset of DI, but the other 2 patients showing a suprasellar mass were still categorized as ‘idiopathic’ at the final clinical evaluation performed 7.8 and 12.3 years after DI onset. In 10 patients (all but 1 with Langerhans’ histiocytosis, showing ‘idiopathic’ DI) the pituitary stalk enlargement was diminished after 2.0 ± 1.9 years of MRI follow-up, and there was a complete reversal of pituitary stalk enlargement in 5 patients. We conclude that the natural history of ‘idiopathic’ isolated central DI with PST is unpredictable. Although germinoma should always be considered during the first 3 years of follow-up in patients presenting isolated DI with PST by repeated investigations every 3–6 months, it remains an infrequent etiology, affecting only 15% of cases in our study.

Nasal pyriform aperture stenosis and absence of the anterior pituitary gland: Report of two cases

We describe two female infants with congenital nasal pyriform aperture stenosis and severe pituitary insufficiency. The anterior pituitary gland was undetectable with magnetic resonance imaging. Consanguinity of parents in both cases suggests autosomal recessive inheritance of this disorder. An early fetal developmental defect may explain this syndrome, which affects midline craniofacial structures. In patients with congenital pyriform aperture stenosis, magnetic resonance imaging of the brain and endocrine investigations should be performed for rapid diagnosis and treatment of the latter to avoid major neurologic complications.

Biometry of the Corpus Callosum in Children: MR Imaging Reference Data

BACKGROUND AND PURPOSE: The availability of data relating to the biometry of the CC in children that are easy to use in daily practice is limited. We present a reference biometry of the CC in MR imaging in a large cohort of children. MATERIALS AND METHODS: Cerebral MR imaging studies of children with normal examination findings were selected retrospectively. Children born preterm and those with or at risk of developing cerebral malformations were excluded. The following parameters were measured: FOD, APD, LCC, GT, BT, IT, ST, and the S/T. Inter- and intraobserver agreement and sex effect were evaluated. RESULTS: Six hundred twenty-two children were included (320 boys, 302 girls), ranging from 1 day to 15 years of age. Normal values (from the 3rd to 97th percentile) are provided for each parameter. All parameters showed rapid growth up to 3 years of age followed by slower (FOD, APD, LCC, GT and ST) or absent (S/T) growth. Growth of BT and IT was completed by 7–8 years. CC modeling (IT/ST) was completed by 3 years. FOD was larger in boys from the age of 1 year (statistically significant). The other parameters did not show any sex effect. Inter- and intraobserver agreement was excellent for all parameters except for IT. CONCLUSIONS: As measured, our data result in easy and reproducible MR imaging biometry of the CC in children.

Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases

Brachytelephalangic chondrodysplasia punctata (CDPX1, OMIM: #302950) is a rare congenital skeletal dysplasia caused by arylsulfatase E deficiency (OMIM: #300180). Although the symptoms are usually mild, severe spinal cord compression by dysplastic vertebras may develop. We report four new cases with severe cervical spinal canal narrowing documented by radiography, magnetic resonance imaging (MRI), and autopsy. In all, nine cases of CDPX1 with severe cervical spinal cord compression have now been described. Because these cases account for a large proportion of all reported CDPX1 cases, we believe that an antenatal suspicion of CDPX1 should lead to genetic counseling and to investigations for spinal cord compression. After birth, this complication must be routinely anticipated, and we suggest spinal MRI in all CDPX1 infants. Unless spinal cord compression is confidently ruled out, we recommend that these newborns receive the same care as trauma patients suspected of craniocervical junction disruption.

Prenatal US evaluation of the spinal cord using high-frequency linear transducers

We illustrate the contribution of high-frequency linear abdominal transducers in the prenatal US examination of the spinal cord. After birth, such transducers are commonly used in US examination of the spinal cord. During the third trimester of gestation, the fetal spine is commonly facing anteriorly and US images of the spinal cord can be acquired using a high-frequency linear abdominal transducer. Images of the normal spinal cord, normal variants (ventriculus terminalis, cyst of filum terminale) and spinal cord abnormalities (myelomeningocele, meningocele, diastematomyelia, tethered spinal cord and caudal regression syndrome) are presented. In this pictorial essay, comparison between images acquired with low- and high-frequency transducers are provided as well as correlation with postnatal data. In the normal spine, anatomical details such as the conus medullaris, the filum terminale and the nerve root bundles are exquisitely depicted, making it possible to differentiate normal variants from abnormalities. In abnormal cases, the position of the conus medullaris, its shape and the nerve roots can be analyzed in detail. We describe the benefits of using high-frequency linear transducers in US examination of the spinal cord, which is common after birth but has not been hitherto reported in fetuses.

Fetal intracerebral hemorrhage and COL4A1 mutation: promise and uncertainty

The first prenatal diagnosis of fetal intracranial hemorrhage (ICH) associated with COL4A1 gene mutation was reported recently1. Through an additional prenatal case, we would like to highlight several issues surrounding parental counseling and obstetric management that are raised by this diagnosis. A 29-year-old patient was referred to our center at 25 weeks’ gestation following detection on ultrasound of bilateral ventriculomegaly. Targeted neurosonography at 27 weeks’ gestation showed enlarged lateral ventricles with hyperechogenic walls and intraventricular blood clots. There was no relevant family history and the patient did not report any abdominal trauma during the pregnancy. Screening for TORCH and alloimmune thrombocytopenia was negative. Recent maternal cytomegalovirus infection was also excluded. A follow-up ultrasound scan at 28 weeks showed bilateral ventricular dilatation and hemorrhage, with massive right hemorrhage involving the subependymal area and the ventricle, and extending to the adjacent basal ganglia and parietal parenchyma (Figure 1). Magnetic resonance imaging confirmed the ultrasound findings. The hemorrhage appeared T1 hyperintense, slightly T2 hyperintense and markedly hypointense on T2*-weighted imaging (Figure 2). The parents were informed of the poor neurological prognosis and elected to terminate the pregnancy at 30 weeks’ gestation. There was no fetal thrombocytopenia at cordocentesis. Postmortem examination confirmed grade IV extensive ICH with the particular association of hemorrhagic lesions of different ages. Hemorrhages were also found in other organs (thymus, liver and adrenal glands). Following termination, fetal genomic DNA was amplified by polymerase chain reaction with 42 sets of primers to investigate the 52 exons and intron–exon boundaries of the COL4A1 gene, based on its reference sequence. A previously unreported G188E mutation of exon 10 in the COL4A1 gene was found. The parents were informed of this result and elected to undergo genetic testing. The mother was found to carry the same COL4A1 mutation. An ophthalmological examination revealed that she had retinal arterial tortuosity. During the patient’s subsequent pregnancy, the implications of genetic prenatal testing were discussed, including the possibility of an elective Cesarean section in case of an affected fetus. The parents opted for prenatal diagnosis. Amniocentesis was performed at 16 weeks’ gestation and the fetus was found to carry the same mutation. The pregnancy was uneventful and serial fetal cerebral ultrasonographic examinations were normal. A 3350-g girl was delivered by elective Cesarean section at 39 weeks. At the time of writing the child was 9 months old with normal development. Our case confirms that a COL4A1 mutation should be considered in cases of ICH when no other identifiable Figure 1 Ultrasound images of fetal intracranial hemorrhage at 28 weeks’ gestation demonstrating enlarged lateral ventricles with intraventricular hemorrhage and hyperechoic and irregular ventricular borders. (a) Axial view, showing involvement of left subependymal area (arrowhead) and hemorrhage (star) in the right ventricle and adjacent thalamus. (b) Right parasagittal view, showing massive hemorrhage (star) involving the thalamus and extending to the adjacent parietal parenchyma (arrow) with ependymal rupture.

Correlation between pre‐ and postnatal cerebral magnetic resonance imaging

To evaluate the diagnostic accuracy of fetal cerebral magnetic resonance imaging (MRI) on a large cohort and to compare pre‐ and postnatal MRI data.

Microcephaly: a radiological review

Microcephaly results from inadequate brain growth during development. It may develop in utero, and therefore be present at birth, or may develop later as a result of perinatal events or postnatal conditions. The aetiology of microcephaly may be congenital (secondary to cerebral malformations or metabolic abnormalities) or acquired, most frequently following an ischaemic insult. This distinct radiological and pathological entity is reviewed with a specific focus on aetiology.

Thyroidite chronique auto-immune chez l'enfant

Objective. – The aim of the study was to describe the clinical characteristics and long-term follow-up of a group of children with chronic autoimmune thyroiditis. Patients and methods. – Sixty children (age: 11.9 ± 2.7 years) were studied in a retrospective analysis. Results. – At diagnosis, 34 of the children were hypothyroid (compensated hypothyroidism, n = 15; true hypothyroidism, n = 19) and 26 euthyroid. Thyroid ultrasonography showed characteristic features of heterogenicity and/or hypoechogenicity in all patients. Other autoimmune diseases were found in ten subjects (17%) and 23% had a family history of thyroid disease. At the end of the follow-up, nine of 45 children (20% of the cases) followed up for at least one year (mean follow-up 4.4 ± 3.7 years), demonstrated a change in thyroid function. Hypothyroidism was detected in two initially euthyroid patients. Among initially hypothyroid patients, seven (28%) recovered normal thyroid function, allowing L-thyroxine withdrawal for four weeks, after 1.5 to 8.4 years. No factor was found to be predictive of the course of the disease. All subjects treated with L-thyroxine for hypothyroidism reached normal final height. Conclusion. – The natural course of chronic lymphocytic thyroiditis is variable and unpredictable. Recovery from hypothyroidism does occur and can be aided by the L-thyroxine withdrawal test. The disease requires lifelong thyroid surveillance, especially in women during pregnancy, in order to avoid a potential adverse effect on the future child.