Ianina Scheer

Uncommon synovial cysts in children

Popliteal synovial cysts (Baker’s cysts) are a common occurrence in children and adults. Synovial cysts in other locations and/or with atypical extension are less common and may be confounded with tumors or other medical conditions. In this article we describe the underlying disease, clinical presentation and clinical course in six children with a sudden onset of paraarticular soft tissue masses or non-specific chronic pain. Ultrasound was the initial imaging method used in all cases; this was supplemented by MRI in three patients. Four children were diagnosed to be suffering from juvenile idiopathic arthritis (JIA), one child from Lyme Arthritis, whereas in one child no underlying disease was identified. Well-demarcated hypoechogenic lesions without signs of perfusion extending from the shoulder (two patients), elbow (one patient), hip (one patient), knee (1) or ankle (one patient) far into the adjacent musculature were detected on ultrasonography. A direct connection to the joint was demonstrated in all cases. All synovial cysts in the five arthritic patients resolved rapidly with medical treatment for arthritis, whereas the cyst persisted in the non-JIA patient. Conclusion: Uncommon synovial cysts occur in particular as a complication of arthritis. Ultrasonography is the initial and follow-up imaging method of choice, which can be supplemented by MRI in unusual cases. Apart from treatment for arthritis, no specific therapeutic interventions were required in the present cases.

Cerebral manifestations, hemihypertrophy and lymphoedema of one leg in a child with epidermal nevus syndrome (Schimmelpenning-Feuerstein-Mims)

The report focuses on a rare variant form of epidermal nevus syndrome (ENS) (Schimmelpenning-Feuerstein-Mims syndrome) describing lesions involving the skin, eyes, skeleton, heart and brain in an 11-year-old boy. Despite his evident brain pathology, the boy lacks neurological symptoms and mental retardation. We describe his unusual MRI appearances and radiographic skeletal findings. To our knowledge this is the first report of ENS with lymphoedema occurring together in the same individual.

Intraventricular hemorrhage in a full-term neonate associated with sinus venous thrombosis and homozygosity for the plasminogen activator inhibitor-1 4G/4G polymorphism.

bleeding from the subependymal germinal matrix with subsequent rupture into the cerebrospinal fluid of the ventricles (IVH). Major IVH in term infants appears to be a rare event associated with intrapartum hypoxia and trauma. However, in a considerable proportion of IVH cases of term newborns, attempts to define pathogenetic factors have failed. Here we report severe bilateral IVH occurring in a 6-day-old term newborn without potentially precipitating events who subsequently was found to have sinus venous thrombosis and a prothrombotic genetic disposition.

Progressive multicystic encephalopathy : Is there more than hypoxia-ischemia?

Progressive multicystic encephalopathy following prenatal or perinatal hypoxia-ischemia is a well-described phenomenon in the literature. The authors report on a term infant with a devastating encephalopathy and severe neuronal dysfunction immediately after delivery without a known antecedent of prenatal or perinatal hypoxia or distress. Clinical and paraclinical findings in the patient are compared with those described in the literature. The authors focus on the specific results guiding to the final diagnosis of progressive multicystic encephalopathy and the timing of morphologic changes. As in this case, if the criteria of an acute hypoxic event sufficient to cause neonatal encephalopathy are not met, then factors other than hypoxia-ischemia may be leading to progressive multicystic encephalopathy.

Melorheostosis of the hand in a 7-year-old girl

Melorheostosis of the hand is rare. We report a 7-year-old girl who presented with a contracture of the left hand. Diagnosis was made by conventional radiography and bone scintigraphy. MRI proved to be a very useful tool to visualize the soft-tissue changes. This is especially important when surgical repair is considered.

Atypical manifestation of childhood primary cerebral lymphoma restricted to the leptomeninges.

We present the atypical manifestation of a primary cerebral lymphoma in childhood due to exclusive affection of the leptomeninges. Retrospectively, adequate treatment was delayed by early administration of glucocorticoids before the histological diagnosis was confirmed. The patient was an otherwise healthy 8-year-old boy who complained of recurrent headaches. On account of a left facial paresis and detection of Borrelia IgM antibodies in serum (CSF was not analysed at this time) he was treated on an outpatient basis with oral penicillin and cortisone for 2 months and full recovery of his facial paresis was achieved. One year later he again reported headaches, a cerebral CT scan was normal and because of an elevated Borrelia IgM level in CSF (18 cells/ll, exclusively lymphoblasts, protein 78 mg/dl, glucose 30 mg/dl) he was treated with cephalosporins for recurrent neuroborreliosis. One month later he displayed right facial paresis, a cerebral MRI scan was normal and a mildly elevated cell count was found in CSF (55 cells/ll, protein 143 mg/dl, glucose 44 mg/dl). Because of his reduced general condition, MRI with contrast medium was done again but found to be uninformative. CSF displayed 60 cells/ll (again exclusively lymphocytes, no lymphoblasts), CSF glucose had fallen to 19 mg/dl and protein was 160 mg/dl. Despite a negative tuberculosis polymerase-chain-reaction in CSF but because of progressively low glucose in CSF, tuberculostatic treatment was started, including rifampicin, pyracinamide, ethambutol, isoniazid and dexamethasone. Two weeks later he developed generalised seizures, became tetraparetic and mechanical ventilation was started. Intravenous amphotericin B was added, spinal MRI and bone marrow histology were normal. Tetraparesis was interpreted as a meningeal compression close to the anterior horn cells and lead to a biopsy of the leptomeninges and underlying cortex yielding the definite diagnosis of primary Burkitt-like lymphoma. The family decided against chemotherapy and the boy died 20 months after initial symptoms. We present the rare case of a primary cerebral B-cell lymphoma in which the appropriate diagnosis was delayed by its atypical presentation due to mere leptomeningeal affection. Sole leptomeningeal affection and dissemination were clearly shown by histological investigations (Fig. 1). To our knowledge, histological proof of mere leptomeningeal affection has not been published so far. Clinical symptoms of cerebral lymphoma usually comply with a fast growing tumour and signs of elevated cranial pressure [5]. However, atypical presentations have rarely been reported and include acute blindness as the solely presenting sign [4]. Additionally, early diagnosis was delayed by administration of glucocorticoids known to lead to a transient amelioration of neurological deficits, marked shrinkage of the tumour as well as B. Uhlenberg (&) Æ A. von Moers Department of Neuropaediatrics, Charité University Medical School, Augustenburger Platz 1, 13353 Berlin, Germany E-mail: birgit.uhlenberg@charite.de Tel.: +49-30-450566112 Fax: +49-30-450566920

Spontaneous regression of a vascular tumor of the skull base--infantile hemangioendothelioma?

Extracerebral masses involving the skull base in children and adolescents are rare. We report on a 4-month-old infant who was diagnosed with a large extracerebral mass in the anterior fossa. Subtotal resection to prevent impending blindness was complicated by almost fatal bleeding. Histopathologically, vessel malformation, epitheloid hemangioendothelioma, and angiosarcoma were possible diagnoses. The residual tumor regressed spontaneously and completely within 6 months after surgery. Retrospectively, histologic and radiologic findings and clinical course prompted the diagnosis of an infantile hemangioendothelioma. To our knowledge, this is the first report on an infantile hemangioendothelioma of the skull base.