Osteopetrosis mimicking juvenile myelomonocytic leukemia.

A 5-month-old boy developed splenomegaly, anemia, thrombocytopenia with elevated white cells, monocytosis and immature granulocytes in the peripheral blood. Bone marrow showed dysplasia without blastosis. Increased colony-forming unit-granulocyte-macrophage was found in the peripheral blood, mimicking granulocyte-macrophage colony-stimulating factor hypersensitivity. These findings fulfilled the diagnosis criteria for juvenile myelomonocytic leukemia (JMML), but no mutations in the CBL, NRAS, KRAS, or PTPN11 genes were detected. In addition to these findings severe hypogammaglobulinemia and elevated alkaline phosphatase were present. Bone X-ray showed dense and radiopaque bones with a bone-in-bone appearance characteristic of infantile malignant osteopetrosis (IMO). Genetic mutation in T-cell, immune regulator 1 (TCIRG1) was identified, confirming the diagnosis of IMO. Careful differential diagnosis including osteopetrosis, is therefore recommended in patients with clinical features and hematologic findings consistent with JMML.

Sternal cleft: prenatal multimodality imaging.

Sternal clefts have been reported sporadically, but there are no reports describing complete investigations of the malformation. We describe a child with isolated inferior sternal cleft diagnosed at 33 weeks of gestation and thoroughly investigated by prenatal US, MRI and CT and preoperative US. Our report highlights the importance of accurate and in-depth investigation by multimodality imaging that allows detection of accompanying serious anomalies and, hence, forms the basis for informed parental counselling and for postnatal interdisciplinary care.

Temple-Baraitser syndrome: a rare and possibly unrecognized condition.

Temple-Baraitser syndrome, previously described in two unrelated patients, is the association of severe mental retardation and abnormal thumbs and great toes. We report two additional unrelated patients with Temple-Baraitser syndrome, review clinical and radiological features of previously reported cases and discuss mode of inheritance. Patients share a consistent pattern of anomalies: hypo or aplasia of the thumb and great toe nails and broadening and/or elongation of the thumbs and halluces, which have a tubular aspect. All patients were born to unrelated parents and occurred as a single occurrence in multiple sibships, suggesting sporadic inheritance from a de novo mutation mechanism. Comparative genomic hybridization in Patients 1, 2 and 3 did not reveal any copy number variations. We confirm that Temple-Baraitser syndrome represents a distinct syndrome, probably unrecognized, possibly caused by a de novo mutation in a not yet identified gene.

National audit on the appropriateness of CT and MRI examinations in Luxembourg.

OBJECTIVES: In Luxembourg, the frequency of CT and MRI examinations per inhabitant is among the highest in Europe. A national audit was conducted to evaluate the appropriateness of CT and MRI examinations according to the national referral guidelines for medical imaging. METHODS: Three hundred and eighty-eight CT and 330 MRI requests corresponding to already performed examinations were provided by all radiology departments in Luxembourg. Four external radiologists evaluated the clinical elements for justification present in each request. They consensually assessed the appropriateness of each requested examination with regard to the national referral guidelines and their clinical experience. RESULTS: The appropriateness rate (AR) was higher for MRI requests than for CT requests (79% vs. 61%; p < 0.001). AR was higher for requests referred by medical specialists rather than by general practitioners, both for CT requests (70% vs. 37%; p < 0.001) and MRI requests (83% vs. 64%; p = 0.002). For CT, AR was higher when the requests concerned paediatric rather than adult patients (82% vs. 58%; p < 0.001), when the radiology departments were equipped with both CT and MRI units rather than with only CT units (65% vs. 47%, p = 0.004) and when the requests concerned head-neck (79%), chest (77%) and chest-abdominal-pelvic (81%) areas rather than spinal (28%), extremity (51%) and abdominal-pelvic (63%) areas (p < 0.001). CONCLUSIONS: The appropriateness of CT and MRI in Luxembourg is not satisfactory and collective efforts to improve should be continued. The focus should be on general practitioners and on spinal CT examinations.

Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal Syndrome.

Trichorhinophalangeal syndrome (TRPS), a type of skeletal dysplasia, is characterized by a triad of dysmorphic (bulbous nose and large ears); ectodermal (thin and sparse hair); and skeletal (short stature and cone-shaped epiphyses) findings, and this combination is helpful for early diagnosis and appropriate follow-up. A 14-year-old boy presented with short stature and distinctive facial features, and following the first clinical and biological evaluation, no precise diagnosis was reached. Progressive bilateral development of noninflammatory and painless deformity of his second finger required a radiological exam that highlighted the key elements (cone-shaped epiphyses) for final diagnosis. This case illustrates the difficulties to early recognition of TRPS when the clinical presentation is not complete and radiological findings are missing.

Neonatal liver cirrhosis without iron overload caused by gestational alloimmune liver disease.

Gestational alloimmune liver disease has emerged as the major cause of antenatal liver injury and failure. It usually manifests as neonatal liver failure with hepatic and extrahepatic iron overload, a clinical presentation called neonatal hemochromatosis. We report on a newborn in whom fetal hepatomegaly was detected during pregnancy and who presented at birth with liver cirrhosis and mild liver dysfunction. Liver biopsy showed the absence of iron overload but strong immunostaining of hepatocytes for the C5b-9 complex, the terminal complement cascade neoantigen occurring specifically during complement activation by the immunoglobulin G-mediated classic pathway, which established the alloimmune nature of the hepatocyte injury. The infant survived with no specific therapy, and follow-up until 36 months showed progressive normalization of all liver parameters. This case report expands the recognized clinical spectrum of congenital alloimmune liver disease to include neonatal liver disease and cirrhosis, even in the absence of siderosis. Such a diagnosis is of utmost importance regarding the necessity for immunotherapy in further pregnancies to avoid recurrence of alloimmune injury.