Paediatric bilateral adrenal phaeochromocytomas in association with a novel mutation in the von Hippel Lindau gene

Abstract:   Functional phaeochromocytoma and paraganglioma are rare in children and adolescents. We report a 12-year-old male with bilateral phaeochromocytoma in whom germ line testing identified a novel mutation in the von Hippel Lindau gene. Early age of onset, bilateral phaeochromocytoma and other clinical features should prompt germ line DNA testing for mutations in genes associated with familial phaeochromocytoma and paraganglioma syndromes.     

Eltrombopag use in a patient with Wiskott–Aldrich syndrome

Wiskott–Aldrich syndrome (WAS) is an inherited X‐linked disorder characterized by microthrombocytopenia, immunodeficiency, and eczema. Hematopoietic stem cell transplantation (HSCT) is the treatment of choice. Eltrombopag, a thrombopoietin receptor agonist, may be useful to prevent bleeding while awaiting HSCT. We present a case of a male with WAS, profound thrombocytopenia, and bleeding diathesis successfully managed with eltrombopag before HSCT. Eltrombopag was given for 32 weeks obtaining a stable platelet count without any platelet transfusion. The patient did not experience any bleeding symptom. Eltrombopag may be a suitable therapeutic option for patients with WAS and severe thrombocytopenia as “bridge” to definitive cure.     

Chemotherapy and interferon‐α treatment of Erdheim–chester disease

Erdheim–Chester disease (ECD) is a rare non‐Langerhans cell histiocytosis of an unknown origin. The prognosis of ECD is variable, and it mainly depends on the involved anatomic sites. The treatment modalities have not been standardized. Interferon‐α (IFN) has been reported to be effective in the management of ECD. We report here on an uncommon case with ECD in a 17‐year‐old female who had multiple lesions in the whole body and she was treated with chemotherapy and IFN. She has remained disease‐free for 2 years after the completion of treatment. Pediatr Blood Cancer. 2010;55:745–747. © 2010 Wiley‐Liss, Inc.     

Facial manifestations of Epstein–Barr virus‐related lymphoproliferative disease in childhood acute lymphoblastic leukemia in remission: Two atypical presentations

Epstein–Barr virus‐related lymphoproliferative disease (EBV‐LPD) rarely occurs in patients with acute lymphoblastic leukemia (ALL), who have not received hematopoietic transplantation. We describe EBV‐LPD manifesting as facial lesions in two children with ALL in remission. One patient was a 16‐year‐old male with T‐cell ALL with an EBV‐positive angiocentric polymorphous lip lesion presenting as right‐sided facial swelling. The other patient was a 12‐year‐old male with B‐cell ALL with an EBV‐positive polymorphous lymphoplasmacytic infiltrate presenting as bilateral dacryoadenitis. Neither patient had known primary immunodeficiencies. Both cases improved with immunosuppressant de‐escalation. These cases suggest that immunosuppression induced by maintenance chemotherapy is sufficient to promote EBV‐LPD.     

Retinal hemorrhages as a presenting sign in an adolescent patient with hepatosplenic gamma–delta T‐cell lymphoma

Hepatosplenic gamma–delta T‐cell lymphoma is a very rare, aggressive form of peripheral lymphoma first recognized in 1990. Patients often present with organomegaly, anemia, adenopathy, and B symptoms. Rarely in the literature is a pediatric patient described with this subtype of peripheral T‐cell lymphoma. Also, retinal hemorrhages have never been described as a presenting symptom of hepatosplenic gamma–delta T‐cell lymphoma. We describe an adolescent patient with hepatosplenic gamma–delta T‐cell lymphoma who presented with retinal hemorrhages, massive splenomegaly, bone marrow involvement, and B symptoms. Pediatr Blood Cancer 2010;55:190–192. © 2010 Wiley‐Liss, Inc.     

Successful treatment of non‐Hodgkin's lymphoma using R‐CHOP in a patient with Wiskott–Aldrich syndrome followed by a reduced‐intensity stem cell transplant

WAS is an X‐linked primary immunodeficiency characterized by microthrombocytopenia, eczema, recurrent infections, and increased incidence of autoimmunity and malignancy. HSCT is the only curative treatment for WAS. Herein, we report the case of a 17‐yr‐old boy with WAS who received an unrelated HSCT while in complete remission of diffuse large B‐cell lymphoma after chemotherapy. Pretransplant conditioning consisted of fludarabine, busulfan, and total body irradiation (4 Gy). GvHD prophylaxis consisted of tacrolimus and short‐course methotrexate. Following HSCT, rapid and stable engraftment was observed. Platelet count gradually increased, and the generalized eczema improved. The patient developed grade II acute GvHD and limited chronic GvHD on days 30 and 210, respectively, which resolved with immunosuppressive treatment. Symptoms caused by the reactivation of human herpes virus‐6, BK virus, and VZV were observed from days 21, 60, and 96, respectively; they were resolved after conservative treatment and acyclovir administration. No other regimen‐related toxicity was observed. Complete donor bone marrow chimerism was achieved one month after transplantation. RIST is an effective therapeutic option for older children with WAS accompanied by malignant lymphoma.     

Successful treatment by coil embolization for infantile hemangioma with Kasabach–Meritt syndrome of newborn

Infantile hemangioma (IH) is the most common tumor of infancy, and it sometimes associated with Kasabach–Meritt syndrome (KMS) characterized by anemia, intraperitoneal hemorrhage secondary to rupture, coagulopathy, jaundice, and vascular malformations involving the brain, skin, gut, and other organs. Here, we report two newborn patients having IH with KMS at birth. The first patient had a giant hemangioma in the liver, which was successfully treated with i.v. corticosteroid and coil embolization. The second patient had a large hemangioma of the right axillary region, which was also successfully treated with i.v. corticosteroid, beta‐blocker, coil embolization and local irradiation. All symptoms were controlled without any side‐effects in both patients. According to these findings, combination therapy including coil embolization and corticosteroid is effective for IH patients with KMS. The indications for and timing of coil embolization should be determined further cases have been accumulated.     

Japanese familial case of myoclonus–dystonia syndrome with a splicing mutation in SGCE

Myoclonus–dystonia syndrome (MDS) is a rare autosomal‐dominant movement disorder characterized by brief, frequently alcohol‐responsive myoclonic jerks that begin in childhood or early adolescence, caused by mutations in the ε‐sarcoglycan gene (SGCE). The patient was a 6‐year‐old boy. At 2 years 8 months, he had abnormal movement when he ran due to dystonia of his left leg. At 3 years 5 months, he exhibited dystonia and myoclonic movement of his arms when eating. Myoclonus was likely to develop when he felt anxiety or exhaustion. Genomic DNA showed a heterozygous mutation in SGCE (c.109 + 1 G > T). His father and uncle with the same mutation also experienced milder dystonia or myoclonic movements. SGCE mutation can cause a broad range of clinical symptoms between and within families. We should consider MDS as a differential diagnosis for patients with paroxysmal walking abnormalities and/or myoclonic movements.     

Successful treatment of mature B‐cell lymphoma with rituximab‐based chemotherapy in a patient with Bloom syndrome

This report presents a case of Bloom syndrome (BS) in a consanguineous Saudi family. The patient, an 11‐year‐old male with mature B‐cell lymphoma, had minimal therapeutic response and significant dose‐limiting toxicity with standard chemotherapy treatment. He later responded successfully to a rituximab‐based chemotherapy protocol. This case highlights that the rituximab‐based chemotherapy protocol is an effective and safe treatment alternative for mature B‐cell lymphoma in patients with BS. Further trials are warranted to investigate this modality of treatment.     

Splenic infarction in a child with primary Epstein–Barr virus infection

Described herein is the case of a previously healthy 7‐year‐old girl who had splenic infarction. This lesion was identified 1 day after the first presentation of peri‐umbilical and right upper quadrant pain. She had abnormal hepatic function and mild splenomegaly, and was diagnosed as having primary Epstein–Barr virus (EBV) infection. Coagulation profiles indicated low plasma activity of protein C (49%) and protein S (47%), which normalized 3 weeks later. Hypercoagulability in transient protein C and protein S deficiency might contribute to the development of splenic infarction in infectious mononucleosis.     

Successful treatment of spinal cord compression secondary to extramedullary hematopoietic mass by hypertransfusion in a patient with thalassemia major

A 15-year-old girl with thalassemia major who suffered from paraparesis with a history of progressive lower limb weakness for 2 years immigrated from mainland China to Hong Kong. She had not received regular blood transfusion since the age of 6 years after splenectomy. MRI of the spine showed thoracic spinal cord compression secondary to extramedullary hematopoietic mass. She made significant recovery with hypertransfusion therapy alone. MRI of the spine repeated 3 months later showed nearly complete resolution of the extramedullary hematopoietic mass.