Giampiero Beluffi

Hypothalamic-pituitary dwarfism: Comparison between MR imaging and CT findings

Magnetic Resonance (MR) imaging was carried out on 33 patients with idiopathic growth hormone deficiency, in 22 of whom CT scan had been carried-out previously. Twenty-one patients presented some complications at birth. Both MR and CT were positive in the evaluation of the sella. MR imaging exhibited a higher degree of accuracy than CT in the evaluation of pituitary gland, pituitary stalk and brain anomalies.On the basis of pituitary morphology demonstrated by MR imaging, and perinatal histories, a classification is proposed which divides our patients into three group: A) a first group of 13 patients presenting severe hypoplasia of the anterior pituitary lobe, hypoplasia of the stalk and ectopia of posterior lobe. The underlying cause of these anatomic defects might be developmental in origin, and date from early intrauterine life, probably worsened at birth. B) a second group of 10 patients presenting severe hypoplasia of the anterior pituitary lobe. A perinatal event and birth trauma might be responsible for pituitary damage. C) a third group of 10 patients with no morphological abnormalities of the pituitary gland. A derangement of the neuroendocrine mechanism which control the growth hormone secretion might account for these patients.

Breast MRI. Fundamentals and technical aspects

In this pocket-size, soft cover 241 page book (hard cover edition published in 2008) prof. Hendrick shares all his experience and knowledge he has gathered over the years as a researcher and teacher in the fi eld of breast magnetic resonance imaging (MRI). The topic is not so simple, yet the way it is addressed (one-on-one teacher-student approach) offers a continuous exchange of knowledge between the teacher and pupil driving to the expected mastering of the subject matter. Starting from the fundamentals of magnetic resonance breast imaging one is taken through all its different modalities and sequences, learning how to use these and how MRI works. Much discussion is devoted to contrast agents, protocols (acquisition and post-processing), artefacts and errors. Hints are also given on safety and patients considerations and to new developments in breast MRI. A very useful appendix on MRI patient and non-patient screening forms in english and spanish, closes the book. The author refers to the “mathematically inclined reader” in order to help him properly understand some of the presented – sometimes at large – formulas; I would also include the “physics inclined reader” since without this sort of inclination and knowledge one would sometimes get lost. The book will be greatly appreciated by all those who are dealing with breast MRI due to its more and more widespread use and its importance in the clinical and diagnostic setting. The less than 10 minute procedure time, due to the use of updated, and even dedicated, scanners and proposed protocols, makes breast MRI competitive and offers more information (just to quote the perfusion curves) than mammography. BOOK REVIEW RECENSIONE

Comparison of clinical-radiological and molecular findings in hypochondroplasia

Hypochondroplasia is an autosomal dominant skeletal dysplasia characterized by disproportionate short stature. A mutation (N540K) in the fibroblast growth factor receptor 3 (FGFR3) gene was described in some patients with this condition. The aims of the study were to identify the frequency of the FGFR3 gene mutation, to define the salient clinical and radiological abnormalities of the affected subjects, and to verify the contribution of molecular findings to the clinical and radiological definition of hypochondroplasia. Based on the most common radiological criteria, we selected 18 patients with a phenotype compatible with hypochondroplasia. Height, sitting height, and cranial circumference were measured in all patients. Radiographs of the lumbar spine, left leg, pelvis, and left hand were also obtained. The presence of the N540K mutation was verified by restriction enzyme digestions. Half of our patients carried the N540K mutation. Although similar in phenotype to the patients without the mutation, they showed in addition relative macrocephaly. The association of the unchanged/narrow interpedicular distance with the fibula longer than the tibia was more common in patients with gene mutation. Although we did not find a firm correlation between genotype and phenotype, in our study the N540K mutation was most often associated with disproportionate short stature, macrocephaly, and with radiological findings of unchanged/narrow interpedicular distance and fibula longer than tibia.

Hypothalamic-pituitary vascularization in pituitary stalk transection syndrome: is the pituitary stalk really transected? The role of gadolinium-DTPA with spin-echo T1 imaging and turbo-FLASH technique.

Abstract We examined 14 patients, aged 10–25 years, with idiopathic hypopituitarism. All presented an ectopic posterior pituitary at the median eminence with a hypoplastic anterior pituitary on magnetic resonance imaging (MRI). Eight patients had isolated growth hormone deficit (IGHD) and six had multiple hormone deficits (MPHD). Unenhanced MRI showed the pituitary stalk, which was extremely thin, in only three patients, while T1-weighted images obtained after intravenous injection of gadopentetate dimeglumine (Gd-DTPA) showed a thin pituitary stalk in seven patients (six with IGHD and one with MPHD), demonstrating a preserved vascular component of the stalk. MRI with Gd-DTPA was more sensitive than unenhanced MRI in detecting the pituitary stalk in patients with hypopituitarism with an ectopic posterior pituitary: the stalk was demonstrated in 50 % of the cases (seven patients), versus 21.4 % (three patients) by unenhanced MRI. The dynamic study of the hypothalamo-hypophyseal axis performed with turbo-FLASH sequences after bolus injection of Gd-DTPA showed the residual anterior pituitary to have arterial enhancement times, which suggests that an arterial system compensates for the absent or diminished blood supply from the portal system, independent of stalk detection.

Pseudodiastrophic dysplasia: A distinct newborn skeletal dysplasia*

Pseudodiastrophic dysplasia is a distinct disorder that differs from diastrophic dysplasia on the basis of clinical, radiographic, and chondro-osseous histopathologic findings. In addition to the rhizomelic shortening of the limbs and severe clubfoot deformity, which suggest the diagnosis of diastrophic dysplasia, distinguishing features are elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis, which are observed in infancy. This disorder has been reported previously in three infants, all of whom died in the first year of life. Two of these were sisters, suggesting autosomal recessive inheritance. We report four new patients with this distinct skeletal dysplasia, including two children now older than 4 years of age. In both of these patients neonatal contractures have improved with physical therapy and scoliosis has progressed significantly.

HLA haplotype segregation and ultrastructural study in familial immotile-cilia syndrome

SummaryThe immotile-cilia syndrome (ICS) is a congenital disorder characterized by dysmotility or even complete immotility of the cilia in the ciliated epithelia. The most frequent consequences include recurrent air-way infections from early childhood. Neonatal asphyxia often occurs. Males are usually sterile, whereas females may be fertile or infertile. The disease is inherited as an autosomal recessive trait, but previous attempts to localize the ICS susceptibility gene have so far been unsuccessful. Here, we present the case of two sib pairs affected by ICS from two unrelated families. The electron microscopic investigation of nasal biopsies showed structural anomalies of the cilia, characterized by single microtubules or doublets, arranged randomly in the axoneme. Histocompatibility antigen (HLA)-genotyping of all family members revealed: 1) a significant association of ICS with the HLA-DR7; DQW2 haplotype, which is shared by all the affected sibs (P = 0.0099; RR = 25.94); 2) a possible linkage of the ICS susceptibility gene with HLA, both the affected sibs being HLA-identical, the healthy brother in family B being HLA-different (sibpair analysis: P < 0.001).

A Review of the Actual Knowledge of the Processes Governing Growth and Development of Long Bones

Autoptic samples of human bones (from 8 weeks of gestation to 12 years of age) and a second group of serial, skeletal x-rays (required for pathologies not related to bone dysplasia in children from 4 months to 17 years of age) provided the material for the analysis of the physes normal growth mechanism presented in this review. Before the appearance of the ossification centers epiphyseal growth rests exclusively on chondrocytes proliferation (interstitial growth), without any detectable differentiated cellular organization. When endochondral ossification starts a defined spatial disposition of chondrocytes and a corresponding organization of the intercellular matrix is set up, so that it is possible to identify a growth vector corresponding to the columns of piled chondrocytes with direction from hypertrophic toward the proliferative cell layers. The complexity of the tubular bones growth process is well represented by the spatial arrangement of the growth vectors. In the late epiphyseal growth another mechanism is active in addition to endochondral ossification, namely, articular cartilage interstitial growth and subchondral remodelling. The knowledge of the normal mode of organization of the physis and its temporal sequence can help to better understand of the deviaton from the normal development of metaphyseal and epiphyseal dysplasias.

Regional assignment of the loci for adenylate kinase to 9q32 and for α1-acid glycoprotein to 9q31-q32: a locus for Goltz syndrome in region 9q32-qter?

SummaryNormal levels of adenylate kinase (AK-1) and of α1-acid glycoprotein (ORM1) were found in a girl with a deletion 9q32-qter secondary to a maternal translocation (4q35; 9q32), thus excluding these loci from the deleted region. These results, and comparison with other informative data, map the locus for AK-1 to 9q32 and that for ORM1 to region 9q31-q32. The girl has several signs of the Goltz syndrome (focal dermal hypoplasia), which is listed in the McKusick catalog (no. 30560) as an X-linked dominant condition. Our finding indicates that the locus for Golz syndrome is autosomal and in region 9q32-qter or that there are two such conditions, one autosomal and one X-linked.

Intervertebral disc calcifications in children

PurposeThis study was done to assess the presence of both asymptomatic and symptomatic intervertebral disc calcifications in a large paediatric population.Materials and methodsWe retrospectively reviewed the radiographs taken during the past 26 years in children (age 0–18 years) undergoing imaging of the spine or of other body segments in which the spine was adequately depicted, to determine possible intervertebral disc calcifications. The following clinical evaluation was extrapolated from the patients’ charts: presence of spinal symptoms, history of trauma, suspected or clinically evident scoliosis, suspected or clinically evident syndromes, bone dysplasias, and preor postoperative chest or abdominal X-rays.ResultsWe detected intervertebral disc calcifications in six patients only. Five calcifications were asymptomatic (one newborn baby with Patau syndrome; three patients studied to rule out scoliosis, hypochondroplasia and syndromic traits; one for dyspnoea due to sunflower seeds inhalation). Only one was symptomatic, with acute neck pain. Calcifications varied in number from one in one patient to two to five in the others.ConclusionsApart from the calcification in the patient with cervical pain, all calcifications were asymptomatic and constituted an incidental finding (particularly those detected at the thoracic level in the patient studied for sunflower-seed inhalation). Calcification shapes were either linear or round. Our series confirms that intervertebral disc calcifications are a rare finding in childhood and should not be a source of concern: symptomatic calcifications tend to regress spontaneously within a short time with or without therapy and immobilisation, whereas asymptomatic calcifications may last for years but disappear before the age of 20 years. Only very few cases, such as those of medullary compression or severe dysphagia due to anterior herniation of cervical discs, may require surgical procedures.AbstractObiettivoValutare la frequenza di calcificazioni intervertebrali, sintomatiche e non in una vasta popolazione pediatrica.Materiali e metodiSono stati valutati retrospettivamente tutti i radiogrammi eseguiti nel corso di 26 anni in bambini (di età compresa tra 0 e 18 anni) sottoposti a studio del rachide o di altri distretti corporei in cui esso era compreso e ne era possibile la valutazione, alla ricerca di eventuali calcificazioni. Dall’esame delle richieste sono state estratte le seguenti informazioni: presenza di sintomatologia riferibile al rachide, anamnesi di trauma, sospetto o diagnosi clinica di scoliosi, sospetto o diagnosi di sindromi, displasie ossee, richiesta di addome e/o torace pre- o post-operatori.RisultatiAbbiamo rilevato la presenza di calcificazioni dei dischi intervertebrali in 6 pazienti; per 5 dei quali non vi era in anamnesi sintomatologia dolorosa (un neonato affetto da sindrome di Patau; tre pazienti erano stati sottoposti ad esame radiologico per diagnosi clinica di scoliosi, ipocondroplasia e stato sindromico, rispettivamente; uno perchè aveva inalato semi di girasole), mentre uno solo era sintomatico, con anamnesi di dolore acuto al rachide cervicale. Le calcificazioni osservate erano di numero variabile da 1 a 5 per paziente.ConclusioniCon la sola eccezione del paziente con algia cervicale, tutte le calcificazioni erano asintomatiche, il loro riscontro risultando del tutto fortuito (in particolare quelle a livello toracico nel paziente sottoposto a radiografia del torace per la inalazione di semi di girasole), avevano di forma variabile, da lineari a rotondeggianti. La casistica esaminata conferma che il riscontro di calcificazioni dei dischi intervertebrali è evento raro nell’infanzia e che non deve destare preoccupazione, anche in presenza di sintomatologia dolorosa, dato che in questo caso la calcificazione tende a regredire spontaneamente ed in breve tempo (contrariamente a quelle indolenti che possono perdurare per anni, per sparire entro i 20), con o senza terapia antidolorifica ed immobilizzazione, richiedendo solo in rarissimi casi (compressioni midollari o gravi fatti disfagici, in caso di erniazione anteriore nelle localizzazioni cervicali) la necessità di interventi chirurgici.

Spinal osteomyelitis due to Aspergillus flavus in a child: a rare complication after haematopoietic stem cell transplantation

We report the case of a child affected by acute myeloid leukaemia who was treated with allogeneic haematopoietic stem cell transplantation and developed cervicothoracic spinal osteomyelitis due to Aspergillus flavus. The diagnosis was difficult on a clinical basis, but made possible by conventional radiography and MRI.