Coexistent hereditary coproporphyria and congenital erythropoietic porphyria (Günther disease)

Summary We present data on one patient with an inheritance pattern for two porphyrias. From her mother she inherited the trait of hereditary coproporphyria; from both parents she inherited the trait of congenital erythropoietic porphyria (Günther disease). Enzyme studies confirmed this new type of dual porphyria.     

A case of adult T cell leukemia complicated by proliferative synovitis

A 60-year-old woman was admitted to our hospital with symmetrical arthritis of the knees. During the 2 years preceding admission, she had experienced recurrent arthritis. A histological examination of her synovial tissue showed prominent villous proliferation of the synovial cells, prominent vascularity throughout and an inflammatory infiltrate composed of abnormal mononuclear cells. Three months later, she developed fever, skin eruptions, lymphadenopathy and hepatosplenomegaly. She also had hypercalcemia and there was abnormal lymphocytosis in her blood smears. She was diagnosed as having adult T cell leukemia. Parenteral chemotherapy treatment with adriamycin and cyclophosphamide gave remission of all the manifestations of disease, including arthritis. Her leukemia recurred, however, and she died 6 months after the diagnosis was made.     

Trichosporon hepatitis

A 33-yr-old Puerto Rican women was hospitalized for chemotherapy and multiple antibiotic treatment for relapse of acute myelomonocytic leukemia. While she was already receiving amphotericin for suspected Aspergillus infection, she developed hepatomegaly and abnormal liver enzymes with high serum bilirubin. The blood cultures were negative. Percutaneous liver biopsy revealed granulomatous fungal hepatitis identified by cultures as Trichosporon cutaneum. In spite of the continued administration of amphotericin, with the addition of 5-fluorocytosine, Trichosporon was later cultured from her blood, and she succumbed to fungemia and polymicrobial sepsis.     

Unusual extramedullary recurrences and breast relapse despite hepatic GVHD after allografting in Ph+-ALL

Extramedullary recurrences with or without bone marrow involvement are reported in up to a half of leukemic relapses after BMT. Our report describes a case of an extramedullary recurrence and breast relapse after second-allografting in a female patient with Ph+-acute lymphoblastic leukemia (ALL), occurring when there was active hepatic GHVD. This case illustrates the complex relationship between graft-versus-host disease (GVHD) and graft-versus-leukemia since she had no evidence of leukemia in her marrow demonstrating 100% full-donor chimerism while she had ALL relapse in her breast.     

Acute intermittent porphyria associated with transient elevation of transaminases during an acute attack

A 44-year-old woman with acute intermittent porphyria (AIP) was admitted to Kudanzaka Hospital because of abdominal pain. A cholecystectomy was performed in another hospital without improvement. On admission, her transaminases were elevated to greater than 1,000 mU/ml. After an intravenous drip of mainly glucose, her transaminases returned to normal. Her acute attacks occurred during stress, and she died of respiratory failure after repetitive acute episodes. AIP should be included in a list of the differential diagnosis of gastrointestinal diseases, neurosis, and hysteria. This is the first case of AIP accompanied by transient marked elevation of transaminases during an acute attack.     

A retrospective study of a patient with homozygous form of acute intermittent porphyria

Summary In 1964 a child with an exceptional form of porphyria was described; she excreted persistently excessive amounts of delta-aminolaevulinic acid, porphobilinogen and uroporphyrin in her urine from early childhood. The biochemical profile resembled that of acute intermittent porphyria (AIP). The child died at the age of 8 years. Reinvestigation of some urine samples by HPLC revealed differences in comparison with urines of other patients with AIP. The clinical picture characterized by porencephaly and severe retardation in development was completely different from that of AIP. Her mother suffered from AIP but the father never had attacks. Investigations on blood and urine samples of the father showed that he also was affected. Due to the early onset in the index patient, its persistent character, and the fact that both parents are affected we postulate retrospectively to have diagnosed a case of homozygous or a double heterozygous AIP, hitherto undescribed.     

A case of bronchiolitis obliterans syndrome successfully treated by Tiotropium bromide]

A 48-year-old woman was admitted with dyspnea on effort. She suffered from adult T-cell leukemia and received peripheral blood stem cell transplantation (PBSCT). Eight months after the PBSCT, she developed dyspnea on effort and was treated with bronchodilator, inhaled corticosteroid, anti-leukotriene drug, theophylline and oxytropium bromide. However her symptoms progressed and she was admitted. We diagnosed bronchiolitis obliterans syndrome (BOS) because of obstructive pulmonary dysfunction, diffuse patchy high density of the lung field on chest computed tomography and decreased ventilation with peripheral patchy accumulation on ventilation scintigraphy. She was treated with corticosteroid and cyclosporine A and her symptoms and her pulmonary function were improved. However, in parallel with corticosteroid tapering, her symptoms and pulmonary functions worsened. Treatment with Tiotropium bromide was started and her pulmonary function improved significantly. Her pulmonary function did not worsen and tapering steroid dose was successfully achieved. PBSCT was reported to up-regulate the muscarinic receptor activity in lung. Tiotropium bromide might become one additional option for the treatment of BOS.     

Acute porphyria presenting with hyperamylasemia

An elevation of serum amylase and lipase has not been reported previously to occur with porphyria. In this report, we describe a patient who presented with the clinical and laboratory picture of pancreatitis: elevated amylase, lipase, amylase-creatinine clearance ratio, and with abdominal pain. Only after extensive evaluation, was the patient found to have porphyria. On two separate occasions, with hematin therapy, her serum amylase decreased, as did her clinical symptoms of porphyria and her urinary quantitative porphyrins. This suggests an association between elevation of the serum amylase and lipase with acute porphyria. Moreover, this association can lead to delay in establishing the diagnosis of acute porphyria.     

Sweet's syndrome followed by retinoic acid syndrome during the treatment of acute promyelocytic leukemia with all-trans retinoic acid.

We present here the case of a 49-year-old female with acute promyelocytic leukemia (APL) who, after first developing all-trans retinoic acid (ATRA)-related Sweet's syndrome, was later diagnosed as having retinoic acid (RA) syndrome. Preceding the RA syndrome diagnosis, she developed a fever as well as erythematous nodules on her upper arms. These symptoms were observed on day 18 of treatment with ATRA. Ten days later, she began to develop respiratory distress. There was no indication of infection, and her condition did not improve with empiric therapy. At this time, the diagnosis of RA syndrome was made, resulting in the initiation of steroid pulse therapy, and within 24 hours her elevated fever and respiratory distress improved markedly. In addition, the erythematous nodules gradually began disappearing. A skin biopsy revealed a dense dermal infiltrate consisting of neutrophils.     

Effective treatment of CMMoL with F-COP (epirubicine, cyclophosphamide, vincristine, prednisolone) therapy]

A 66-year-old female was admitted with high fever and loss of consciousness. For the past one year, she has experienced recurrent febrile episodes. On admission, the presence of monocytosis, thrombocytopenia of the peripheral blood and dysplastic findings of the bone marrow cells indicated chronic myelomonocytic leukemia (CMMoL). The high fever persisted in spite of treatment with antibiotics. Although she was treated by pulse therapy with methyl-prednisolone, her clinical symptoms did not improve. Pleural effusion and ascites were also noted. Treatment with F-COP (epirubicine, cyclophosphamide, vincristine, prednisolone) therapy, resulted in a dramatic improvement of her condition. The F-COP therapy was given monthly for the next 7 months. This case suggests that F-COP therapy may be effective for some patients with CMMoL.     

A case of Pneumocystis carinii pneumonia with hyperinfection of Strongyloides stercoralis complicated with smoldering adult T-cell leukemia

A 43-year-old woman visited a clinic for an attack of bronchial asthma which she had been suffering since her childhood. She was treated with prednisolone which was used for the first time. Two weeks later, she had a fever and her chest X-ray showed diffuse reticulonodular shadows on both middle to lower lung fields. In spite of the use of antibacterial drugs, her symptoms such as cough, dyspnea, malaise and fever increased. It was revealed that she had Stronglyoides sterocoralis in the stool. She was referred to our department for treatment and further examination. Transbronchial lung biopsy (TBLB) was performed, and cyst of Pneumocystis carinii were histologically detected in the lung specimen. Anti-human T-lymphotropic virus type 1 (HTLV-1) antibody in the serum was 1:4,096 less than. Typical adult T-cell leukemia (ATL) cells were also observed in the peripheral blood smear at the rate of 10-15% of leukocytes. The parasite was observed in the sputum too. We diagnosed her as having Pneumocystis carinii pneumonia with hyperinfection of Strongyloides stercoralis complicated with smoldering ATL, and the pneumonia might have been induced by steroid therapy (total doses of 500 mg, for 25 days). After sulfamethoxazole-trimethoprim (ST compound) was used for the Pneumocystis carinii pneumonia, her symptoms markedly subsided, and the chest X-ray findings turned to normal by 45 days after the treatment. Thiabendazole was initially administered for the Strongyloidiasis and the parasite temporarily disappeared from both sputum and stool. Then pyrvinium pamoate and mebendazole were used, but the parasite could not be completely eradicated in the stool. We did not treat the smoldering ATL because there were no symptoms. We have been looking after her as an outpatient now, and she has neither symptoms nor signs.     

Thalidomide and dexamethasone therapy of myeloma in a patient with previously untreated B-chronic lymphocytic leukemia

A 67-year-old woman with previously untreated lambda-positive B-chronic lymphocytic leukemia (CLL) had kappa-positive myeloma develop that was treated with daily thalidomide and intermittent dexamethasone. After 4 months, there was a marked reduction in marrow plasmacytosis, urine kappa chains, and peripheral blood and marrow lymphocytosis. She reduced her thalidomide (but not dexamethasone) doses after 6 months, because she had symptoms of peripheral neuropathy. Although blood lymphocyte concentrations remained normal, she had progression of myeloma and died. Thalidomide and dexamethasone therapy similar to that administered for myeloma alone may be effective treatment for myeloma in patients with preexisting B-CLL and may also have anti-B-CLL activity.     

Metastatic squamous cell carcinoma in a bone marrow transplant recipient

We report a case of 53 year old female with history of acute myelogenous leukemia, for which she underwent allogeneic peripheral blood stem cell transplant; her course was complicated by chronic graft versus host disease. Seven years later she presents with squamous cell carcinoma of the skin which metastasize to her heart. Here, in this case we tend to highlight the aggressive nature of the squamous cell carcinoma in an immunocompromised individual.     

Porphyria cutanea tarda and haemochromatosis: a family study.

A female patient aged 73 presented with a history of general malaise and hyperpigmentation. Iron studies in the patient and immediate family members indicated that the proband was homozygous for haemochromatosis, but subsequent investigations revealed that porphyria cutanea tarda was responsible for her signs and symptoms. Venesection of four units of blood brought her symptoms under control. The interplay between porphyria cutanea tarda and excess iron deposition is discussed as is the role of extending investigations to first and second degree relatives when either haemochromatosis or porphyria cutanea tarda is suspected.     

Acute myelogenous leukemia complicated by compartment syndrome

A 37-year-old woman was diagnosed as having acute myelogenous leukemia. After obtaining complete remission by induction therapy, consolidation therapy was performed. She collapsed during an episode of chemotherapy-induced pancytopenia and developed compartment syndrome of the lower leg a week later. Fasciotomy was performed successfully, and she maintained her complete remission. Early diagnosis and fasciotomy are important in patients with leukemia complicated by compartment syndrome.     

Cord blood transplantation after successful treatment of brain abscess caused by Bacillus cereus in a patient with acute myeloid leukemia

Central nervous system infection caused by Bacillus cereus is a rare condition, which often progresses rapidly and is fatal in immunocompromised patients. A 54-year-old woman with acute myelogenous leukemia fell into a coma with high fever during severe neutropenia while undergoing chemotherapy. A blood culture demonstrated the presence of B. cereus and magnetic resonance imaging showed multiple abnormal lesions in her brain. The patient was treated with meropenem and vancomycin, and recovered from the coma in a week. Antibiotic therapy was administered for seven weeks, and then she underwent cord blood transplantation for refractory acute myelogenous leukemia with successful engraftment without exacerbation of the brain abscess. This case demonstrates that brain abscess caused by B. cereus can be treated without surgical treatment.     

Therapy-related acute promyelocytic leukemia with a t(9;22)(q34;q11) and t(15;17)(q22;q11 to approximately 12) subclone

The translocation (15;17) is a typical marker of acute promyelocytic leukemia, whereas t(9;22) is predominantly associated with chronic myelogenous leukemia, and seldom with acute myelogenous leukemia. Furthermore, the association between t(15;17) and t(9;22) in the same cell is extremely rare. We present a case of therapy-related acute promyelocytic leukemia (t-APL) with a subclone accompanied by karyotype 46, XX, t(9; 22)(q34;q11), t(15 ;17)(q22;11 to approximately 12) at onset. A 75-year-old woman was diagnosed as having non-Hodgkin lymphoma of the thyroid gland in July 1997. She was treated with a CHOP-like regimen, but complete remission (CR) was not achieved. She then underwent surgical resection of her thyroid gland, and was treated with etoposide (total dose 16775 mg) from February 1998 to May 2000. In June 2000, having developed t-APL, she was referred to our department. The patient attained CR following treatment with chemotherapy containing all-trans retinoic acid. Ten months later she relapsed, but lost the t(9;22), while maintaining the t(15;17).     

Discrepant results of ABO type of red cells and serum in a patient with acute myelogenous leukemia

A 42-year-old woman was admitted to our hospital with acute myelogenous leukemia. We conducted blood-type examination, and her serum showed strong agglutination with all B cells but questionable agglutination with A1 cells, which became stronger with incubation. We considered her blood type as O, but her previously assessed blood type was A. After receiving one cycle of induction therapy, she achieved complete remission and blood group A antigen was proven on her red blood cells. Anti-A1 in her serum disappeared after induction therapy. We should be aware that blood group antigens are not entirely independent of the environment and are occasionally modified by disease.     

Premenstrual attacks of acute intermittent porphyria: hormonal and metabolic aspects - a case report.

We report the case of a 38-year-old woman with acute intermittent porphyria (AIP). Following the observation of an acute AIP attack in the patient's father, the diagnosis was established after genetic and biochemical examinations. At the age of 29, eight months after delivery of her first and only child, the patient was hospitalized due to a first proven attack of AIP. In the following years she suffered several premenstrual AIP attacks, with clinical symptoms ranging from abdominal pain to paralysis. One attack was accompanied by an increased urinary catecholamine output, strongly indicating adrenergic hyperactivity. The precipitation of acute episodes by secretion of gonadotrophins and a severe hyponatraemia due to a syndrome of inappropriate anti-diuretic hormone secretion indicated hypothalamic involvement in the pathogenesis of AIP. This patient has experienced an evolution of treatment regimens. At first, acute attacks were treated by i.v. hypertonic glucose. Afterwards propranolol was instituted as a maintenance therapy. Later on, i.v. injections of haem arginate were very successful in resolving acute AIP episodes. However, until therapy with an LHRH analogue was started, the patient continued to suffer premenstrual AIP attacks. These LHRH analogues cause hypothalamic inhibition of gonadotrophin secretion, with stabilization of endogenous ovarian steroid production at a low level, and therefore may be effective in preventing acute exacerbations of this disease. Since this patient went on a fixed regimen of an LHRH analogue combined with the lowest dose oestrogen patch her quality of life has improved substantially and she has not required hospitalization, now for over 3 years.     

Porphyria variegata and porphyria cutanea tarda in siblings: chemical and genetic aspects.

A woman aged 54 was studied because of a severe acute porphyric (neurologic) relapse with clinical and chemical findings characteristic of porphyria variegata. During a family survey, her brother, aged 59, was found to have chemical abnormalities typical of porphyria cutanea tarda, without suggestion of neurologic manifestations. He had mild skin changes compatible with either of these forms of porphyria. The sister exhibited the protocoproporphyria of porphyria variegata, together with a large amount of fecal "x" porphyrin fraction, without demonstrable isocoproporphyrins. The brother had a uro-isocopro-type of porphyria in accord with the diagnosis of porphyria cutanea tarda, and quite at variance with the sister's findings. This occurrence of porphyria variegata and porphyria cutanea tarda in siblings is thus far unique. Certain hypotheses are considered in respect to genetic aspects of the differing prophyrias in this sibling pair.