Craniopharyngiomas in two consanguineous siblings: case report

OBJECTIVE AND IMPORTANCE: We describe a double case of craniopharyngioma in consanguineous siblings, suggesting the disease is sometimes genetic. CLINICAL PRESENTATION: Two typical adamantine craniopharyngiomas were observed in two consanguineous siblings. The brother and the sister, whose parents were first cousins, developed the tumors at the same age. INTERVENTION: The male patient was operated on using a frontopterional approach, and the tumor was completely resected. The patient remained free from recurrence 9 years after surgery. His older sister died after tumor removal was attempted at another institution. CONCLUSION: To our knowledge, such a connection has never been reported in the literature. It suggests that craniopharyngioma, which is usually sporadic, can also be transmitted in an autosomal recessive manner.     

Middle cerebral artery main stem thrombosis in two siblings with familial thrombotic thrombocytopenic purpura

Idiopathic thrombotic thrombocytopenic purpura (TTP) is frequently complicated by microinfarcts in cerebral cortex and subcortical white matter. We describe two sisters who suffered massive hemispheric infarction due to thrombosis of the middle cerebral artery main stem during exacerbations of TTP. Acute TTP may be associated with intraluminal thrombosis of large-diameter arteries in addition to arterioles and capillaries.     

Hereditary spastic paraplegia: report of two siblings

A Japanese boy had marked generalized hypotonia and weakness and progressive respiratory failure since birth. Left biceps brachii muscle biopsy at 47 days of age showed marked variation in muscle fiber size, and nemaline and/or cytoplasmic bodies in approximately 10% of the muscle fibers. To our knowledge, the presence of nemaline and cytoplasmic bodies in the same muscle has not been previously reported. The severity of his respiratory failure and muscle weakness were thought to be related to muscle immaturity since there were many undifferentiated type 2C fibers.     

Intravenous loading with arginine-hydrochloride and ornithine-aspartate in siblings of two families, presenting a familial neurological syndrome associated with cystinuria

1. Arginine-hydrochloride and ornithine-aspartate solutions have been infused intravenously to children of two families. Three children of the WOL. family are affected with hyperargininemia and hyperammonemia, due to a lack of arginase. They present a secondary cystine-lysinuria. The three WIL. siblings are suffering from muscular hypotonia, dwarfism, incomplete renal tubular acidosis and primary cystinuria. 2. The aim was to verify how and to what extent the artificial rise of one serum amino acid could influence the serum concentrations and the urinary losses of the other amino acids. The results found for the serum have been submitted to a statistical analysis of variance. 3. The variations observed for the amino acids of the urea cycle can be interpreted as being the reflections of known metabolic pathways. 4. Additional remarks are made on a paradox in the lysinemia-lysinuria relation after arginine infusion, with a simultaneous rise of this essential amino acid in serum and urine.     

Origins of familial similarity in parenting: A study of twins and adoptive siblings.

Parents of young children completed questionnaires that assessed attitudes toward parenting and specific parenting practices, the emotional atmosphere of the home, and parental personality. These parents were themselves either identical twins (n?=?90), fraternal twins (n?=?56), or adoptive siblings (n?=?40). Model-fitting results implicate modest genetic effects on affect-related aspects of parenting, such as parental warmth. The results add new dimensions to the growing body of literature that documents genetic influences on measures of the family environment and suggest that childrearing variables are significantly related to the major factors of parental personality. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Coexistent Hirschsprung's disease and esophageal achalasia in male siblings

Achalasia of the esophagus developed in two male siblings soon after birth, and they were successfully treated by surgery. Persistent signs resulted in the later diagnosis of Hirschsprung's disease. One required subtotal colectomy and ileoanal anastomosis, and the other is managing well on conservative treatment. Genetic analysis of the genes encoding the RET protooncogene, endothelin-3, and the endothelin-3 receptor did not show any defect. Familial achalasia of the esophagus in combination with Hirschsprung's disease has never been reported.     

Occlusal and functional evaluations in adults: a case report

Completely different entities might be with the same possibility in the baseline of interweaving of symptoms and signs of nervous system damage. One of them, the deficiency of vitamin B12 very frequently causes megaloblastic anemia and funicular myelosis. In the case of our patient, after the clinical picture of hemolytic anemia was revealed, by slow-progressive course was developed neurologic deficiency that, according to its features, could have the deficiency of cobalamin and folic acid in its etiologic background. On the basis of disease course, clinical finding, numerous clinical investigations so as the reaction to applied therapy it was assumed that the patient had besides confirmed autoimmune hemolytic anemia the pernicious anemia as the associated cause of anemic syndrome and the basic reason of the development of neurologic deficiency. Described is the frequent associated occurrence of pernicious anemia and antiglobulin positive hemolytic anemia, so as the significant association of pernicious anemia with the deficiency of immunoglobulins that was otherwise observed in our patient as the permanent IgA deficiency.     

A case of familial ventricular tachycardia

From January 1986 to December 1989, 157 previously untreated patients, with Hodgkin's disease stage I or II without bulky disease, were enrolled in a clinical comparative study. The objectives of the study were to compare the efficacy and safety of using epirubicine or mitoxantrone instead of adriamycin in the combination chemotherapy regimen ABVD (adriamycin, bleomycin, vinblastine, and dacarbazine). The complete response rate was better in the patients treated with the ABVD or EBVD regimens compared to the MBVD arm. Also, differences in overall survival and relapse-free survival were better in the patients who received ABVD or EBVD compared to the MBVD regimen. Hematological, gastrointestinal and cardiac toxicity were similar in the three groups. Dose intensity, delays and complications were also similar in the three groups. The mitoxantrone-containing regimen was found to have less efficacy in comparison to the other regimens tested in the present study in patients with favorable stage I or II Hodgkin's disease.     

Amnesia as a consequence of male rape: A case report.

A male patient suffering from a generalized functional retrograde amnesia, for all autobiographical information, was admitted to a psychiatric inpatient facility. Psychological testing indicated possible sexual assault. Following five hypnotic sessions, the patient regained his memory, and a violent sexual attack by two males was validated. The amnesia is discussed in terms of the constructs of implicit versus explicit memory, and reasons why a male rape victim might suffer such an extreme reaction. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

A familial case of hyper-IgM immunodeficiency

A 22-year-old male was diagnosed as having immunodeficiency with hyper-IgM based upon recurrent pneumonia, marked elevation of serum IgM and markedly decreased level of IgG. IgG-or IgA-bearing B cells were not detected in peripheral blood while a number and a proportion of peripheral blood T lymphocytes were normal. Peripheral blood lymphocytes from this patient proliferated normally in response to T-independent and T-dependent B cell mitogens, and to T cell mitogens. Furthermore, the same type of dysgammaglobulinemia with increased IgM was found in the patient's father and brother. From these observations, it is suggested that it is a rare case of autosomal dominant or polygenal inheritance of hyper-IgM immunodeficiency.     

A case of progressive multifocal leukoencephalopathy with methionine uptake demonstrated by PET]

We report here a 55-year-old man with progressive multifocal leukoencephalopathy (PML) associated with chronic adult T cell leukemia (ATL). Neurological examination revealed mild dementia, right homonymous hemianopsia and visual agnosia. Serologically anti-HTLV-I antibody was positive. Peripheral blood analysis showed ATL cells up to 23% in white blood cells. Because he did not have symptoms or signs directly related to ATL, it was considered that he had chronic ATL. T2-weighted cranial MRI demonstrated multiple hyperintensity lesions confined to the white matter from the bilateral occipital to parietal lobes, without enhancement after gadolinium administration or mass effect. We performed stereotactic biopsy of the left occipitoparietal white matter. Histological examination of the biopsied specimens showed demyelinated lesions, containing foamy macrophages and bizarre astrocytes. Oligodendrocytes contained nuclear inclusions which reacted with an antibody against the JC virus (JCV) antigen. These findings were consistent with those of PML. The genomic analysis of JCV from the biopsied brain revealed deletions in the regulatory region. We investigated cerebral blood flow, glucose and amino acid metabolism in this patient using positron emission tomography, and obtained the following three characteristic findings in the lesions: 1) luxury perfusion state, 2) decreased fluorodeoxyglucose (FDG) uptake, and 3) increased methionine (Met) uptake. These findings resembled those of low grade tumors.     

A familial case with generalized resistance to thyroid hormones

BACKGROUND: The syndrome of generalized resistance to thyroid hormones is more frequent than was thought. CASE REPORTS: A 13-year old girl was examined for her short stature. Evaluation of her thyroid function showed increased levels of IT3 and IT4 and normal value of TSH; she also had mosaic Turner's syndrome. Her cousin was rapidly diagnosed as suffering from the same syndrome because of moderately high thyrotropic levels found during neonatal screening; this syndrome was confirmed by molecular biology tests. Five generations of this family were identified as being affected with a pattern indicating autosomal dominant inheritance. CONCLUSION: The clinical manifestations of familial generalized resistance to thyroid hormones vary but this syndrome is easy to biologically confirm. The importance of diagnosing affected children as early as possible should be emphasized, as in such cases their development must be closely monitored particularly where their growth and neurodevelopment are concerned.     

Early onset dystonia decreasing with development. Case report of two children with familial myoclonic dystonia

Two related girls had the onset of unilateral leg dystonia in the neonatal period and at 13 months, respectively. The dystonic signs subsided with motor development and resolved completely in one of the girls by the age of 5 years. There was no response to L-dopa. From 2-3 years of age segmental myoclonus with a shoulder girdle distribution appeared. Family investigation results were compatible with autosomal dominant myoclonic dystonia responsive to alcohol. The onset and resolution of dystonia have not been described previously. This disorder is genetically separate from torsion dystonia. No linkage has been found to the dopamine beta-hydroxylase gene locus. Genetically determined disorders of neurotransmission may add to our knowledge of the normal development of motor control and thus merit further study.     

Eccrine acrospiroma in a young African male: case report

This is a report of a rare benign neoplasm of the sweat gland in a 23 year old African male. Clinically, the growth had the appearance of an ulcerated malignant cutaneous neoplasm. It was completely and easily excised at surgery and the patient has remained well without recurrence five years after complete excision.     

Pulmonary histoplasmosis in a Japanese male: report of a case

A case of pulmonary histoplasmosis, which is rare in Japan, is reported herein. A 43-year-old man who had worked in Mexico for 2 years and had come back to Japan 3 months earlier, presented at our hospital because of an abnormal shadow on his chest roentogenogram with no symptoms. His chest roentogenogram as well as chest computed tomograms revealed a 2-cm-diameter nodule in the anterior basal segment of his right lung and an enlargement of the subcarinal lymph node. Although these pictures seemed to indicate an advanced lung cancer, no malignant cells were found based on the brushing cytology findings after bronchoscopy. An exploratory thoracoscopic tumor resection and biopsy of the enlarged lymph node led to a histological diagnosis of an abscess due to histoplasma. The hospital course was uneventful. Postoperatively, amphotericin B was administered for 1 year. This is the eighth case of pulmonary histoplasmosis reported in Japan. A pulmonary nodule together with mediastinal lymphoadenopathy seems to be characteristic in these patients. Histoplasmosis should therefore be considered in the differential diagnosis, since overseas travel has now become common-place for the Japanese.     

Behr''s syndrome. A report of 2 siblings studied by MR

Neuroleptic malignant syndrome is an idiosyncratic reaction associated with the use of neuroleptic drugs. We report a case of this rare syndrome in a head injury patient associated with some unusual features: rhabdomyolysis with a high level of creatine kinase, the development of acute renal failure, the early use of continuous venovenous haemofiltration in treatment and rigidity that was refractory to conventional treatment with dantrolene and bromocriptine. The diagnosis in patients with multiple injuries must be based on a high index of suspicion.