Gene/Protein Disease Symptom Drug Enzyme Compound
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An unusual presentation of acute megakaryocytic leukemia (AMKL) is reported in two young children. The first child had a 10-day history of ptosis of the right eyelid as the initial manifestation of AMKL, a clinical picture not previously described in this variant of leukemia. Computed tomographic scanning showed multiple intracranial mass lesions, and the diagnosis of AMKL was confirmed by immunophenotyping of bone marrow blasts. The second child had Down syndrome and received alkylating agents and radiation therapy for treatment of metastatic rhabdomyosarcoma of the orbit. She had AMKL as second malignancy. Both patients had acquired chromosome 21 anomalies in their leukemic blasts. The first patient, constitutionally normal, had an i(21q) in his leukemic blasts; the patient with constitutional trisomy 21 had tetrasomy 21 and additional chromosomal changes. The clinical symptoms and the results of morphologic, immunologic, and cytogenetic studies are discussed.
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PMID:Acute megakaryocytic leukemia in children. Clinical, immunologic, and cytogenetic findings in two patients. 183 41

The involvement of the central nervous system in acute leukemia was studied in 15 adult patient. 60% of the patients were up to 35 years of age and 12 of them (80%) were with acute lymphoblastic leukemia. In 12 of the patients the nervous system was affected in the acute course of the disease, in one female patients--in the course of induction treatment and in the remaining patients--after the induction treatment. The manifestations of neuroleukemia are predominantly meningoradicular irritation with headache--in 86.7% of the patients, diplopia, papilledema, dysarthria and palpebral ptosis with affection of the cranial nerves (III, IV, V, VI, VII, VIII, IX, XII). In 12 patients (87.5%) blast cells were found in the cerebrospinal fluid in numbers ranging from 70 up to 36,000/mm3. In 26.7% of the patients other extramedullary localizations of leukemia were found parallelly (testes, thyroid gland hypopharynx, muscles). The application of methotrexate intrathecally and radiation therapy of the cranium led to a remission in 43% of the patients. Favourable results with considerably prolonged survival can be achieved also in patients with many recurrences of the disease. The need of neuroleukemia prophylaxis is proved (it is obligatory for the patients with acute lymphatic leukemia and with some forms of acute myeloblastic leukemia).
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PMID:[Extramedullary localization of acute leukemia. I. The involvement of the central nervous system]. 316 77

Burkitt's lymphoma was first reported by Burkitt in 1958 as a sarcoma involving the jaw in African children with characteristic symptoms. Forty three Japanese cases have been reported since the first description by Oboshi et al. in 1969. We report a case of Burkitt's lymphoma with left total ophthalmoplegia. A 73-year-old Japanese female was admitted in Sadamoto Hospital on July 11, 1983 with a two-week history of headache, ptosis and double vision. The patient was exposed to the atomic bomb in Hiroshima and had ten-year history of hypertension. On admission, physical examination showed hypertension and neurological examination revealed only left total ophthalmoplegia (such as left ptosis, external ophthalmoplegia, mydriasis and deficit of light reflex). Plain X-ray film and enhanced CT scan showed no remarkable abnormalities. Laboratory examinations revealed high serum levels of GOT(51 K.U.) and LDH (1300 U.). Left carotid and right retrograde branchial angiograms showed no remarkable abnormal findings. While the patient was treated only conservatively, left abducent and trochleal nerve palsy appeared on August 5, 1983. On plain and enhanced CT scans at the time, abnormal density mass with bone destruction of the left sphenoidal sinus was demonstrated. Biopsy specimen from the left sphenoidal sinus showed lymphosarcomatous cells. Peripheral blood and bone marrow smears showed lymphoma cells which are compatible with L3-Burkitt's type according to FAB leukemia classification. The patient was diagnosed as leukemic transformation of Burkitt's lymphoma and treated with CHOP; Cyclophosphamide (C), Hydroxydaunorubicin(H), Vincristine (O), and Prednisolone (P).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of Burkitt's lymphoma with total ophthalmoplegia]. 408 40

An 83-year old female was given an intravitreal injection of 0.4 ml of triamcinolone acetonide (TA) by her local ophthalmologist for age-related maculopathy with a large choroidal neovascularisation in the left eye. During the injection, globe explosion occurred with nasal limbal rupture and extrusion of intraocular contents. Emergency primary wound repair was performed at the Eye Surgery Centre Erlangen-Mitte. During surgery, a 9 mm limbal rupture with prolapse of half of the iris and subconjunctival extrusion of the complete natural lens was discovered. After lens removal, anterior vitrectomy and iris repositioning, the wound was closed and the eye left aphakic. The further postoperative course was unremarkable and the patient retained her preoperative visual acuity of counting fingers. In this case, several factors may have contributed to the dramatic events: relative nanophthalmus (preoperative refraction + 5.0dpt), scleral weakness secondary to chemotherapy for leukemia, older age, and a relatively large volume of injected TA. The intravitreal injection of drugs may cause serious complications. Paracentesis or limited pars plana vitrectomy should be considered prior to intravitreal injection in high-risk cases to prevent such disastrous complications.
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PMID:[Globe explosion due to intravitreal injection]. 1908 91

Vincristine is a vinca alkaloid used in combination with other agents in the treatment of solid tumors, lymphoma, and leukemia, as well as for idiopathic thrombocytopenic purpura and autoimmune hemolytic anemia. A dose-limiting complication of vinca alkaloids is neurotoxicity. Vincristine is the oldest and also the most neurotoxic agent in this group. Described here is the case of a 4-year-old girl with unilateral palpebral ptosis. She has been diagnosed with precursor B-cell acute lymphoblastic leukemia. Ptosis was noted on the 45th day of therapy, and the last vincristine was administered on the 28th day of protocol 1. Vincristine-induced unilateral palpebral ptosis is a novel finding. Experience with this case suggests conservative treatment, with periodic examination, especially if ptosis is mild.
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PMID:Vincristine-induced unilateral ptosis in a child. 1993 Nov 72

Toxoplasmosis is a rare opportunistic protozoal infection, which may occur in patients after hematopoietic stem cell transplantation. This disease originates almost exclusively from reactivation of latent infection in seropositive recipients. We present a case report of one patient with diagnosis of acute myeloid leukemia undergoing two allogeneic stem cell transplantations at two years interval. The second transplantation was complicated by the development of the toxoplasmic encephalitis in early posttransplant course. The initial neurological symptoms included diplopia caused by the paresis of right side motor branches of the 3rd and 6th cranial nerves due to a compressive lesion in basal ganglia. Patient suddenly deteriorated after an epileptic seizure followed by a loss of consciousness, bilateral ptosis and right side mydriasis. Prolonged sopor and bilateral mydriasis appeared because of the further lesion progression in basal ganglia and compression of the 3rd cranial nerve. After targeted therapy of Toxoplasma gondii the patient's clinical status improved and she regained consciousness. Unfortunately, examination of bone marrow later revealed the relapse of leukemia. We compared risk factors of the latent reactivation of infection in immunocompromised patients with published data. It is of interest that the toxoplasmosis of the brain developed in this patient after the second transplantation.
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PMID:[Toxoplasmosis of the central nervous systems after allogeneic stem cell transplantation]. 2051 52

A 48-year-old man presented with left ptosis and double vision. Laboratory test findings indicated acute lymphoblastic leukemia (ALL). Lymphoblastic infiltration of both cavernous sinuses was observed on pituitary gland magnetic resonance imaging. Leukemias may present by many clinical conditions, but isolated cranial nerve palsy is very rare. To our knowledge, this is the first case of ALL presenting with oculomotor nerve palsy. Clinicians should consider oculomotor nerve palsy as the first ALL indication.
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PMID:Acute lymphoblastic leukemia presenting with oculomotor nerve palsy. 2236 84

We present a rare case of primary T-cell lymphoblastic lymphoma of the pituitary gland. A 58-year-old woman presented with headaches, right-sided ptosis and cranial nerve III palsy. She subsequently developed polyuria, polydipsia, and hyperglycemia and was found to have hypopituitarism. MRI revealed a large, heterogeneously enhancing intrasellar/suprasellar lesion displacing the optic chiasm and extending into the right cavernous sinus. Radiologically, these findings were thought to represent an invasive pituitary adenoma. Pterional craniotomy was performed with subtotal tumor resection. Histopathological examination revealed a T-cell lymphoblastic lymphoma/leukemia (T-LBL) admixed with pituitary corticotrophic cell hyperplasia. CT scans of the chest, abdomen and pelvis showed no evidence of systemic disease. Analysis of peripheral blood and bone marrow, including flow cytometry, demonstrated no involvement by T-LBL. Follow-up MRI of the spine revealed abnormalities in the distal thoracic spinal cord and conus medullaris, raising suspicions of leptomeningeal dissemination. Only five case reports of T-cell primary pituitary lymphoma (PPL) have been previously described, four of which were associated with hypopituitarism and/or concurrent pituitary adenoma. We present the first report of a T-cell PPL associated with adenohypophyseal hyperplasia and the third documented occurrence of a primary pituitary T-LBL.
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PMID:T-cell lymphoblastic lymphoma/leukemia presenting as a pituitary mass lesion: a case report and review of the literature. 2243 97

Vincristine is used in the treatment of solid tumors, lymphoma and leukemia in children. The dose-limiting toxicity is its neurotoxicity. We describe a 2-year-old girl with acute lymphoblastic leukemia who developed vincristine-induced polyneuropathy with bilateral ptosis and recovered on treatment with pyridoxine and pyridostigmine.
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PMID:Successful treatment of vincristine induced ptosis and polyneuropathy with pyridoxine and pyridostigmine in a child with acute lymphoblastic leukemia. 2324 29

Five case histories are presented. Waldenstrom's macroglobulinaemia caused bilateral central retinal vein occlusion, proptosis was the presenting feature of retro-orbital plasmacytoma in relapsed multiple myeloma, a red painful eye was due to neovascular glaucoma in primary polycythaemia, bilateral VIth nerve palsy caused convergent squint and diplopia in meningeal relapse of acute lymphoblastic leukaemia and lymphoma of the eyelid caused complete ptosis. Interdisciplinary management is described. Ophthalmological lesions in haematological disease should be promptly recognized and managed. Collaboration between ophthalmology and haematology departments may be effective for palliative management.
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PMID:Ophthalmic manifestations of haematological disorders. 2417 39


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