Larva migrans syndrome: a rare differential asthma diagnosis

PURPOSE: The aim of the study is to demonstrate the changes in visual evoked potentials (VEP) in treatment of amblyopia. MATERIAL AND METHODS: Pattern reversal VEP of 28 children treated because of amblyopia and 16 healthy persons were analysed. Before treatment and after treatment the results of the interocular amplitude difference ratio and interocular latency difference ratio were compared with standards. RESULTS: After treatment of amblyopia the percentage of normal interocular amplitude and latency difference ratios increased. CONCLUSION: Study of pattern VEP enables monitoring of amblyopia treatment.     

Shy-Drager syndrome: a rare cause of orthostatic hypotension

HISTORY AND ADMISSION FINDINGS: A 71-year-old man was admitted because of treatment-resistant orthostatic hypotension of unknown aetiology. When aged 64 years he developed some impotence and later urinary incontinence and urinary frequency. At 68 years he noted vertigo on physical activity, and a year later he had signs of reversible cerebral ischaemia. At this point the Schellong test demonstrated vasovagal circulatory dysfunction. After his 70th birthday the unsteadiness on walking and standing got worse and he had recurrent syncopes. He was in a wheel-chair when hospitalized and even the unsteady walk he could maintain for only a few seconds. INVESTIGATIONS: Plasma and urinary concentrations of catecholamines were at the lower limit of normal but failed to increase during orthostasis. Hormonal, cardiological and infectious causes of the orthostatic hypotension were excluded. Orthostatic tests after Schellong and with the tilting table showed orthostatic hypotension without increased sympathetic activity but hypertensive blood pressure levels during the recumbent period. Intravenous infusion of norepinephrine produced an excess rise in blood pressure (raised norepinephrine sensitivity). The recurrent urinary infection was shown to be due to a hypotonic bladder detrusor muscle. Neurological examination revealed cerebellar dysfunction, signs of pyramidal tract abnormality and sensory polyneuropathy. A Shy-Drager syndrome was diagnosed on the basis of the history, absent blood pressure rise and lack of catecholamine release during orthostasis with increased epinephrine sensitivity and characteristic neurological signs. TREATMENT AND COURSE: Physiotherapy and elastic stockings with administration of mineralocorticoids as well as of one direct (norfenefrine) and one indirect (amezinium) sympathomimetic drug failed to improve adequately the abnormal orthostatic response. But on additional administration of an alpha 2-receptor antagonist (yohimbine) the patient was able to stand and walk for a few minutes, but the urinary incontinence and the other neurological signs remained treatment-resistant. CONCLUSION: If orthostatic hypotension occurs together with neurological symptoms, a Shy-Drager syndrome should be taken into account.     

Boerhaave''s syndrome and children: a rare and unexpected combination

Boerhaave's syndrome, or the spontaneous rupture of the esophagus, appears most commonly in males between the ages of 40 and 60. Severe vomiting followed by excruciating chest pain are the classic clinical signs, often in conjunction with a history of over indulgence in food and alcohol. The authors describe a case of Boerhaave's syndrome in a child, the result of missed appendicitis.     

Bouveret's syndrome: a rare consequence of malignant cholecystoduodenal fistula

We report a case of duodenal gallstone obstruction, resulting from cholecystoduodenal fistula. Fistulization was associated with a repeat chronic inflammation and metastatic carcinomatous infiltration. The diagnosis was confirmed by ultrasonography, barium meal examination, and gastroscopy. An attempt at endoscopic extraction was unsuccessful and the patient was referred for operative therapy. We present a graphic algorithm for decision-making in Bouveret's syndrome.     

Kindler syndrome: a rare cause of desquamative lesions of the gingiva

Kindler syndrome is a rare syndrome with cutaneous and intraoral manifestations. It has been suggested that there is an overlap between this syndrome and another called Weary syndrome. Only 68 cases of Weary and Kindler syndromes have been reported, with fewer solely attributed to Kindler syndrome. The salient cutaneous features are neonatal bullae, poikiloderma, photosensitivity, and acral atrophy. This article presents the clinical intraoral findings of two siblings of consanguineous descent diagnosed as having Kindler syndrome. Both had an erythematous and erosive appearance of the gingiva; one sibling had poor oral hygiene and a rapidly progressive form of periodontal disease; the other, whose oral hygiene was acceptable, had no detectable bone loss.     

Bobble-head doll syndrome: a surgically treatable condition manifested as a rare movement disorder

K-TEA Comprehensive Reading scores of 34 elementary boys in either resource rooms or regular settings were compared. The boys were identified as learning disabled in reading. They were pretested at the beginning of the school year and posttested at the end. Treatment was one year of daily instruction in reading provided by six teachers in resource setting and six teachers in regular settings. K-TEA Reading Decoding and Reading Comprehension scores, separately compared in 2 x 2 repeated-measures analysis of variance, were not significantly different.     

The Cronkhite-Canada Syndrome. A rare differential diagnosis of generalized gastrointestinal polyposis

HISTORY AND FINDINGS: A 56-year-old man was admitted to hospital because of chronic diarrhoea. 15 months earlier he had begun to notice changes in taste sensation, then nail discoloration and dystrophy as well as alopecia areata. On examination he was also found to have lower leg oedema and cutaneous hyperpigmentation. INVESTIGATIONS: Biochemical tests showed hypoproteinaemia with reduced serum total protein (4.2 g/dl) and albumin concentrations (2.0 g/dl), hypokalemia and hypocalcaemia, as well as zinc and vitamin B12 deficiency. Stool alpha 1-antitrypsin was raised to 5.9 mg/g. Erythrocyte sedimentation rate was 17/26 mm and C-reactive protein was raised to 6.9 mg/dl. Gastroscopy, coloscopy and small-intestine double contrast radiology (after Sellink) demonstrated multiple polyps, histologically revealing pseudopolypoid-inflammatory changes with cystic dilatation, consistent with Cronkhite-Canada syndrome (CCS), a condition characterised by the described endoscopic, radiological and histomorphological changes together with the characteristic ectodermal abnormalities. TREATMENT AND COURSE: At first only symptomatic measures were taken: fluid, electrolyte and protein infusions and administration of zinc and vitamin B12. Stool frequency was regulated by diet and medication. The patient was discharged in much improved general condition and closely followed clinically and endoscopically because of the relatively poor prognosis and frequent occurrence of adenomatous polyps which are at a high risk of malignant degeneration. CONCLUSIONS: In the differential diagnosis of generalised intestinal polyposis only careful investigation by endoscopy and radiology of the entire gastrointestinal tract with biopsies can identify CCS. While treatment is largely symptomatic, its poor prognosis calls for new therapeutic measures.     

A rare case of diplopia: medial inferior pontine syndrome or Foville's syndrome

A case of medial inferior pontine syndrome or Foville's syndrome is described. The patient presented to the emergency department with an acute history of slurred speech, vertigo and diplopia as major complaints. He also mentioned the appearance of weakness and numbness in his left leg. The physical examination revealed a crossed neurological deficit (ipsilateral cranial nerve deficit with contralateral motor weakness) which is typical for posterior circulation stroke in the brainstem territory. In our patient the lesion was located in the right medial inferior pontine region. All the symptoms and signs disappeared within 24 hours confirming the importance of a detailed physical and neurological examination of each patient presenting at the emergency department with a neurological deficit.     

Opitz oculo-genito-laryngeal syndrome: a rare cause of recurrent aspiration pneumonia in an adult

A 64 year old woman presented with persistent and severe symptoms due to recurrent aspiration pneumonias associated with oesophageal reflux. She had had multiple miscarriages and her son at birth had widely spaced eyes (hypertelorism), hypospadias, bilateral undescended testes, and an imperforate anus. Her daughter has mild hypertelorism and her daughter's son had neonatal inspiratory stridor, hypospadias and hypertelorism, all features now recognised as typical of the Opitz oculo-genito-laryngeal syndrome. This syndrome is genetically heterogeneous with autosomal dominant (linked to chromosome 22q21) and X-linked (linked to Xp22) inheritance. This family's history and genetic linkage data are consistent with linkage to Xp22. The proband is a manifesting carrier of this syndrome; her history of recurrent aspiration is probably secondary to pharyngeal neuromuscular incoordination aggravating gastro-oesophageal reflux. Obtaining a family history gives a vital clue to the diagnosis of Opitz oculo-genito-laryngeal syndrome. It is also suggested that this condition should be included in the differential diagnosis of recurrent aspiration pneumonia.     

Leptospirosis: a rare cause of acute respiratory distress syndrome in metropolitan France]

We report a case of acute respiratory distress with fatal outcome due to ictero-hemorrhagic leptospirosis. The association with an intra-alveolar hemorrhage suggested the corticosteroid therapy would be useful in this case.     

CHILD syndrome. Case report of a rare genetic dermatosis

We report on a 2-month-old girl who developed unilateral ichthyosiform erythrodermia on the right side of her trunk and the right leg 1 week after birth. In addition, there was hexadactyly of her right hand. Apart from that, close physical examinations did not reveal any other defects. We diagnosed this condition as CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and limb defects).     

Epstein-Barr virus, hemophagocytic syndrome and angiocentric lymphoma: a rare and fatal association]

Nitric oxide (NO) generation from a spin trap, N-tert-butyl-alpha-phenylnitrone (PBN) under various oxidative conditions was examined. The absorbance of PBN at 295 nm decreased with time of UV-irradiation, showing that PBN was decomposed by UV irradiation. The hydroxyl radical formed from a Fenton reagent also decomposed PBN, but there was little effect by a peroxyl radical and a superoxide. Nitrite, an oxidative product of NO, in PBN solution was determined using a NOx analyzer based on Griess reaction. UV-irradiation and the hydroxyl radical also formed nitrite. Direct detection of NO from the sample on reaction with hydroxyl radical was successful using a GC/MS/SIM on the UV-irradiated sample. NO generated in PBN solutions activated guanylate cyclase. From these results, PBN is viewed as a new kind of medicine which acts as an antioxidant and as an NO donor in vivo.     

Covered exstrophy: a rare variant

A case of covered exstrophy without sequestration of a bowel segment is reported. A 4-year-old female presented with dribbling of urine. Treatment to date has been simple excision of the covered membrane with functional closure of the bladder and bilateral posterior iliac osteotomies, with reconstruction of the bladder neck and genitalia to be performed at a later date. The embryogenesis of this rare variant, a review of the reported cases, and management options are discussed. Keyword Covered exstrophy. Exstrophy. Bladder variants     

Retrograde ureteral intussusception: a rare complication

A 45-year-old man with a history of cyclophosphamide exposure underwent repeated ureteroscopy for positive urine cytology findings after resection of a Grade 2 papillary transitional-cell carcinoma of the bladder. Despite careful technique, an intussusception developed in the left ureter, which was repaired by resection and construction of a Boari flap. To our knowledge, this is the first report of retrograde ureteral intussusception caused by ureteroscopy.