Noonan syndrome with hypertrophic obstructive cardiomyopathy

A case of a 20 years old female who had Noonan syndrome associated with obstructive cardiomyopathy was presented. It is well known that Noonan syndrome is frequently complicated with cardiac anomaly, and although no autopsies were performed two cases have been diagnosed clinically as Noonan syndrome accompanied with idiopathic cardiomyopathy in our country. The present case would be the first autopsied case in Japan of Noonan syndrome associated with idiopathic obstructive cardiomyopathy.     

NOONAN SYNDROME WITH HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY

A case of a 20 years old female who had Noonan syndrome associated with obstructive cardiomyopathy was presented. It is well known that Noonan syndrome is frequently complicated with cardiac anomaly, and although no autopsies were performed two cases have been diagnosed clinically as Noonan syndrome accompanied with idiopathic cardiomyopathy in our country. The present case would be the first autopsied case in Japan of Noonan syndrome associated with idiopathic obstructive cardiomyopathy.     

Multiple vascular malformation in the 'blue rubber bleb naevus' syndrome: a case with aneurysm of vein of Galen and vascular lesions suggesting a link to the Weber–Osler–Rendu syndrome

A case of Bean's syndrome is reported in which a wide variety of vascular malformations are illustrated. Among these were multiple arterio-venous malformations including a so-called vein of Galen aneurysm. A comparison of this case with those in the literature suggests that the pathology in patients with Bean's syndrome may be more varied than heretofore recognized, and that an overlap between this syndrome and the Osler–Weber–Rendu syndrome may exist.     

Acute Low-Dose Hydralazine Induced Lupus Syndrome (HILS)

A case of acute hydralazine induced lupus syndrome is described. No case has previously been described in which a small daily dose and a small accumulation dose have evoked this syndrome in such a short period of time. A pertinent and selective review of this syndrome is presented. The need for awareness of this syndrome manifesting in a patient exposed to small doses of hydralazine for short periods of time is emphasized.     

Oral diffuse B-cell non-Hodgkin's lymphoma associated to Gorlin-Goltz syndrome: a case report with one year follow-up

Nevoid cell carcinoma syndrome or Gorlin-Goltz syndrome is an autosomal dominant disorder characterized by multiple basal cell carcinoma, multiple keratocyst tumors, and skeletal anomalies. The Gorlin-Goltz syndrome has been associated with numerous benign and malignant neoplasms. The authors describe a case of Gorlin-Goltz syndrome in association with non-Hodgkin's lymphoma. To the best of our knowledge, this is the second case described in the English literature.     

Syndrome neurologique postpaludisme compliquant un paludisme simple à Plasmodium falciparum à Madagascar

Post-malaria neurological syndrome is a rare complication of malaria. Typically, it occurs in case of severe malaria. Here we report a case in a Malagasy patient presenting a non-severe Plasmodium falciparum malaria complicated by post-malaria neurological syndrome. The management of such a syndrome is radically different from non-severe malaria. No specific treatment is needed.     

Recurrent hydramnios as a result of fetal Bartter's syndrome (a case report).

Bartter's syndrome has been reported as a rare case of hydramnios. A unique case of recurrent hydramnios in pregnancy as a result of fetal Bartter's syndrome on both occasions is presented.     

The Niikawa-Kuroki (Kabuki make-up) syndrome in a Moslem Arab child

The Niikawa-Kuroki "Kabuki Make-Up" syndrome is a rare sporadic malformation syndrome, characterised by severe psychomotor and growth retardation, peculiar facies, including long palpabral fissures and large malformed ears and skeletal abnormalities. We report a 2-year-old Moslem Arab boy with 28 of the 32 originally described features of this syndrome and in addition with hyperelastic joints, hypospadias and scaphocephaly which were not previously described in association with the Kabuki make-up syndrome. This is the fifth reported case of this syndrome in a non-Japanese patient, and the second reported case in a patient of Arab descent.     

Lower limb anomalies in the thrombocytopenia absent-radius (TAR) syndrome

We report a case of the TAR syndrome with severe abnormalities of the lower limbs. The syndrome of thrombocytopenia and radial deformities occasionally presents diagnostic difficulties when severe limb anomalies are present. Based on this case and 2 additional cases from the literature, reduction anomalies of the lower limbs should be considered part of the TAR syndrome.     

Twenty-eight-year-old female with primary amenorrhea and chronic renal failure: a case of Frasier syndrome?

Frasier syndrome is a very rare developmental disorder of autosomal recessive inheritance. It is characterized by male hermaphroditism, primary amenorrhea, chronic renal failure (CRF), and a number of other abnormalities. A 28-year-old Nigerian female who was considered as a possible case of Frasier syndrome first presented to us in July 2002 with primary amenorrhea, congenital bilateral absence of middle toes, elevated blood pressure, and the uremic syndrome. The management of the case was mainly conservative, including blood pressure control with appropriate antihypertensives. The problems inherent in this index case are discussed while proffering appropriate management approach in a near-ideal situation, which unfortunately is nonexistent in our local environment. The presentation of this case is informed by the need to create awareness about this rare syndrome being a possible cause of CRF in some of our patients.     

Ellis-van Creveld syndrome and dyserythropoiesis

Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder characterized by a variable spectrum of clinical findings. Classical EVC syndrome comprises a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. In several case reports, dysplasia involving other organs has also been identified. Hematologic abnormalities have been rarely reported in patients with EVC syndrome. Here, we report a case of a 3-year-old Hispanic boy with EVC syndrome and marked dyserythropoiesis. The dyserythropoiesis may be part of an isolated myelodysplastic change or a primary myelodysplastic syndrome and likely represents an unusual EVC syndrome association. To our knowledge, this association has not been previously reported.     

Nicolau syndrome following intramuscular benzathine penicillin

Nicolau syndrome (NS) is a rare complication of an intramuscular injection characterized by severe pain, skin discoloration, and varying levels of tissue necrosis. The case outcomes vary from atrophic ulcers and severe pain to sepsis and limb amputation. We describe a case of a seven-year-old boy with diagnosis of NS after intramuscular benzathine penicillin injection to the ventrolateral aspect of the left thigh. Characteristic violaceous discoloration of skin and immediate injection site pain identified it as a case of NS. The case was complicated by rapid progression of compartment syndrome of the lower limb, proceeding to acute renal failure and death. Associated compartment syndrome can be postulated as a poor prognostic factor for NS.     

Primary lymphedema with coarctation of the aorta: Possible new syndrome or variant of Irons–Bianchi syndrome?

We present a boy with congenital lymphedema, a congenital heart defect (coarctation of the aorta), and mild dysmorphic features. Clinical impression and targeted investigations ruled out Noonan syndrome and Milroy syndrome, but it was not clear whether or not he had Irons-Bianchi syndrome. We discuss the genomic and lymphoscintigraphy evaluation of this case, and review whether the small number of current case reports represent the original Irons-Bianchi syndrome or variants. We anticipate that ongoing molecular investigations such as Next Generation Sequencing will delineate a currently clinically defined phenotypic spectrum.     

The branchio-oto-renal (BOR) syndrome: report of bilateral renal agenesis in three sibs

We report a man who had the branchio-oto-renal (BOR) syndrome with crossed renal ectopia. His three children were born with bilateral renal agenesis and the so-called Potter syndrome. This case illustrates the potential severity of the renal anomalies in the BOR syndrome and the inadequacy of oligohydramnios and maternal serum alpha-fetoprotein as screening methods for renal agenesis. This case also implies strongly the necessity for meticulous search for renal anomalies in individuals with the BOR syndrome and proper counseling regarding the possibility of lethal bilateral renal agenesis.     

Severe postaxial acrofacial dysostosis: an anatomic and angiographic study

We describe a severe case of postaxial acrofacial dysostosis syndrome [POADS] or Genée-Wiedemann syndrome in a stillborn female. The report includes an arteriographic and anatomic study of the limbs. Previously unreported findings such as hypoplasia of the femora, ossification defect of the ischium and pubis, bilobed tongue, and lung hypoplasia were noted. This case documents further variability in the POADS or Genée-Wiedemann syndrome.     

New finding of Schinzel-Giedion syndrome: A case with a malignant sacrococcygeal teratoma

We report on a boy with Schinzel-Giedion syndrome (SGS) with a previously unreported manifestation, a malignant sacrococcygeal teratoma. This is the second case of SGS to have a malignancy, as one earlier case had a hepatoblastoma. We postulate that the occurrence of 2 uncommon embryonic tumors among these patients with a rare syndrome may mean that risk of malignancy may be a component of this syndrome. © 1993 Wiley-Liss, Inc.     

AN AUTOPSY CASE OF MULTIPLE INTRAPULMONARY ARTERY ANEURYSMS WITH SYSTEMIC THROMBOENDOPHLEBITIS, THE "HUGHES-STOVIN SYNDROME"

The first case of multiple intrapulmonary artery aneurysms with systemic thrombophlebitis in Japan was reported.
This case belongs to the category of the "Hughes-Stovin syndrome" proposed by Kopp and Green. The clinical and pathological findings of this syndrome was briefly summarized. The main pathological change in the present case was systemic angitis, which appeared to be an underlying cause of the "Hughes-Stovin syndrome"     

The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome.

A case is reported where the major clinical features of craniostenosis and radial aplasia led to an initial diagnosis of Baller-Gerold syndrome. Mild fibular hypoplasia on skeletal survey led to review of the diagnosis and the similarity of the facial phenotype to that of Roberts syndrome was noted. Chromosome analysis showed the premature centromere separation characteristic of this condition. This case raises the question as to whether the Baller-Gerold syndrome can be considered as a distinct entity. It is suggested that cases diagnosed as having Baller-Gerold syndrome should have cytogenetic analysis and that known Roberts syndrome survivors are reviewed for signs of craniostenosis.     

Cronkhite Canada syndrome

Cronkhite Canada syndrome is an acquired non-familial syndrome characterised by diffuse gastrointestinal polyposis with alopecia nail dystrophy and hyperpigmentation. There is chronic diarrhoea and protein losing enteropathy. The etiology of this syndrome remains obscure. The rarity of the case prompts this case report.     

Unusual presentation of Lemierre's syndrome due to Fusobacterium nucleatum

We report a case of Lemierre's syndrome due to Fusobacterium nucleatum in a previously healthy 19-year-old male. This is the first case report of Lemierre's syndrome due to thrombophlebitis of the external jugular vein. The patient had a rapid clinical response to anticoagulation and antibiotics, as supported by anecdotal evidence.