Faculty Bibliography

"Lymphangiomatosis" is a general term for excessive growth of aberrant lymphatic vessels. The impact of lymphangiomatosis can be devastating due to osteolysis and/or multi-organ involvement. The disorders are heterogeneous, and treatment is dependent upon disease location and symptoms. Most reports are single cases or small case series, predominantly in the orthopedic and radiologic literature. Basic research focused on lymphatic disorders may translate into new therapies for these disorders.

Object Surgery is increasingly used to treat children with refractory epilepsy. Before surgery, the authors routinely evaluated the coagulation profile to identify coagulation abnormalities not established by personal and family history, physical examination, and routine screening tests. Methods Thirty-nine consecutive children undergoing testing prior to epilepsy surgery were prospectively evaluated. The authors evaluated a detailed hematological history and an elaborative hematological panel including complete blood count, hepatic panel, anticoagulant levels, coagulation profile (prothrombin time, partial thromboplastin time, international normalized ratio, fibrinogen, thrombin time, von Willebrand antigen, ristocetin cofactor, factor VIII, and individual factor assays when indicated) and platelet aggregation studies (in the presence of adenosine diphosphate, epinephrine, collagen, and ristocetin). Patient variables included tuberous sclerosis complex (TSC), age at epilepsy onset, age at surgery, seizure frequency, number and type of antiepileptic drugs, recent or present ketogenic diet, and use of selective serotonin reuptake inhibitors. Results Ten children (25.6%) had either coagulation or platelet function abnormalities. Abnormal coagulation was identified in 5 children, and abnormal platelet function was discovered in 6. A diagnosis of TSC was associated with a platelet function abnormality (p = 0.012), whereas children without TSC had a higher rate of coagulopathy (p = 0.041). None of the other characteristics reached statistical significance. In 2 patients (5.1%) with TSC and platelet aggregation abnormalities, the authors noted normal standard screening laboratory studies and an uneventful detailed personal and family history. One of these 2 patients developed a significant intraoperative bleeding complication. Conclusions A preoperative screening with standard laboratory studies and detailed history may not be adequate to fully examine underlying coagulation abnormalities in children with refractory epilepsy. Platelet aggregation studies should be considered in patients with TSC

Sialoblastoma is the most common epithelial tumor of the salivary gland. We report a case of congenital sialoblastoma arising in a minor salivary gland of the buccal mucosa of a male infant. After radiologic evaluation, an incisional biopsy was performed and then the mass was excised en bloc. Histologic features were both favorable and unfavorable. However, there was no recurrence for 5 months. In spite of a reported histologic grading system, the clinical course of isolated sialoblastoma is considered unpredictable. More published case reports of this rare tumor may enable histologic and clinical correlation in order to accurately predict prognosis

We attempted to identify the association of multifocal hemangiomas, specifically hepatic hemangiomatosis, in twins. We retrospectively reviewed our database of infants with hemangiomas, identifying those twins who both had hemangiomas, and we report two cases of twins with hemangiomatosis, including hepatic hemangiomas. Of 39 sets of twins in our Hemangioma Program, both twins had hemangiomas in seven twin sets. Of these seven sets, only the two reported in this article had hemangiomatosis. There were also five sets of triplets, with one set having two siblings affected by hemangiomas. We concluded that although hemangiomas in multiple gestation infants is well known, hemangiomatosis including hepatic hemangiomatosis is unusual

ABSTRACT Consanguinity allows for the expression of rare genetic disorders. We present the first case of an infant, born to consanguineous parents, with congenital lamellar ichthyosis, congenital lymphatic malformation, congenital hypothyroidism, bilateral megaureter, benign external hydrocephalus, and syrinx of the spinal cord. We review the disorders, examine their genetic causes, and explore the genetic connection among them

Rapidly involuting congenital haemangioma (RICH) may present with thrombocytopenia, low fibrinogen and elevated fibrin degradation products and D-dimers. Such complications have rarely been reported. We wished to define the clinical characteristics of the thrombocytopenia and coagulopathy associated with RICH, to emphasize the transient nature of this haematological complication and to distinguish these abnormalities from true Kasabach-Merritt phenomenon (KMP). We present a case series of seven patients with large RICH who presented with thrombocytopenia and coagulopathy during the first week of life. Clinical and haematological characteristics were recorded retrospectively. Two of the patients were treated with embolization due to early signs of high-output cardiac failure; four patients received oral corticosteroids in the range of 2 mg kg(-1) daily; one patient did not receive any treatment in the neonatal period, although the tumour was excised at 6 months of age. Two patients with platelet counts lower than 10 x 10(9) L(-1) received a platelet transfusion. There were no bleeding complications and only one patient presented with petechiae. In all seven patients, platelet counts started to increase at > 2 weeks of age and the coagulopathy resolved. We conclude that RICH may present with thrombocytopenia and coagulopathy similar to mild KMP early in the neonatal period. However, in contrast to true KMP, these abnormal laboratory findings are self-limited and are usually not complicated by bleeding problems

The articles in this issue underscore the variety of innovative programs and techniques essential to a pediatric and young adult day hospital setting. While patients at the Stephen D. Hassenfeld Children's Center for Cancer and Blood Disorders (SDHCC) at New York University (NYU) Langone Medical Center have hematologic or oncologic disorders, the facility design, programming, and philosophies discussed can be universally applied to any patient