Aggressive Systemic Mastocytosis Following Ovarian Germ Cell Tumor

A 4 years-old girl was diagnosed with aggressive systemic mastocytosis at 2 months after the end of chemotherapy including cisplatin, bleomycin and etoposide for an ovarian germ cell tumor (GCT). She was shown pigmented skin lesion, hepatosplenomegaly, thrombocytopenia and increased mast cells with positive toluidine blue staining on the bone marrow examination. Immunohistochemical staining for c-kit was highly expressed in the bone marrow and skin, but not in the GCT specimen. However, c-kit point mutation was detected in the bone marrow, peripheral blood and GCT tissue when performing PCR via oligonucleotide sequencing. We report here on one case of aggressive systemic mastocytosis following ovarian germ cell tumor with c-kit point mutation.

A Case of a Coincidence of Rolandic and Childhood Absence Epilepsy / 대한소아신경학회지

Rolandic epilepsy(or benign epilepsy with centrotemporal spikes) and childhood absence epilepsy are idiopathic epilepsies and are the most common forms of age-related epilepsies, occurring in previously neurologically normal children. Benign epilepsy with centrotemporal spikes is the most common partial childhood epilepsy, beginning between 2 and 13 years of age and characterized by typical EEG focal discharges and a self- limited course with recovery in or before puberty. Childhood absence epilepsy is one of generalized epilepsies with bilateral synchronous and symmetrical spike-wave paroxysms of 3 Hz and it has a good prognosis under a correct antiepilepsy treatment. These two epilepsies share some common features : similar age at onset, overall good prognosis and marked hereditary predisposition. A coincidence of these two epilepsies in a patient is very rare. We experienced a case of a coincidence of rolandic and childhood absence epilepsy in a 6 year-old female. The presence of an absence focus in rolandic epilepy, however, makes the coincidence of these entirely distinct phenomena, even if very rare, not excluded. We present the case with a review of related literature.

Gelastic Seizure with Ataxic Hemiparesis Following Aseptic Meningitis / 대한소아신경학회지

Gelastic seizure(ictal laughter) is quite rare and associated with variable etiologies. The relationship between infection and gelastic seizure is not clear. The seizure usually begins in infancy or childhood and may be accompanied with precocious puberty and cognitive decline. It is known to be poorly responded to medical or surgical treatments. A 5-year-old boy diagnosed and aseptic meningitis visited our hospital again twenty days later because of paroxysmal and frequent involuntary laughing regardless of emotional changes, left side dominant muscle weakness and ataxia with gait disturbance for 5 days. Initial brain magnetic resonance image(MRI) showed no abnormalities but follow-up MRI taken twenty days later showed high signal intensity on right thalamus. The interictal electroencephalogram(EEG) revealed multiple polyspikes over the frontal area. Other etiologies could not be documented. It was suspected that previous aseptic meningitis resulted in gelastic seizure with ataxic hemiparesis. After medical treatment, he acquired good outcomes with a seizure free state.

A Case of Evans Syndrome during Valproate Therapy / 대한소아혈액종양학회지

We report the first case of immune mediated thrombocytopenia and concurrent hemolytic anemia (Evans syndrome) that developed during valproic acid (VPA) therapy. The 6 years-old girl had been stable with VPA therapy for seizure disorder for 5 years. She was admitted due to purpura and petechiae on both legs. Her blood test was only significant for thrombocytopenia with normal hemoglobin level. Her thrombocytopenia was not caused by VPA toxicity, because of positive anti-platelet antibody. Thrombocytopenia was improved after steroid and intravenous globulin. However, hemoglobin was shown gradual drop with increased reticulocytes counts, high level of lactic dehydrogenase, and a positive direct Coombs test. She had a complete clinical recovery with negative anti-platelet antibody and direct Coombs test after discontinuation of VPA. VPA has a lot of side effects including hematologic toxicity, although this drug is used for seizure disorders. This report is the first Evans syndrome due to VPA, even though VPA induced pure red cell aplasia with positive anti-nuclear antibody or thrombocytopenia by direct toxicity.

Secondary Renal Cell Carcinoma in a Child Treated for Germ Cell Tumor / 대한소아혈액종양학회지

Advances for the treatment of childhood cancer in several decades have remarkably improved long-term survival. Anticancer therapy is capable of causing a variety of delayed toxicities including secondary malignant neoplasm. Therefore close follow-up for secondary malignant neoplasm is important for surviving patients from cancer. Renal cell carcinoma is a rare tumor in childhood and has been reported previously to occur after treatment of a few solid tumors, including neuroblastoma. This report represents the first documented case of renal cell carcinoma arising as a secondary malignant neoplasm in a pediatric patient who previously was treated for germ cell tumor.