Pre-Cushing's syndrome: a case report.

A 67-year-old man affected by prostate cancer was incidentally found to have a nodular enlargement of the left adrenal gland without apparent changes in hormonal status. The adrenal mass was found to be scintigraphically active, the radiolabelled compound being concentrated in its context with a consensual suppression of the contralateral uptake. The patient underwent a resection of the adrenal tumor. Histologically and biochemically, the adrenal mass was found to be a non-functioning adenoma. The radioisotopic uptake along with the non-hormonal activity prompted us to call this tumor "Pre-Cushing's syndrome" of the adrenal cortex.     

Congenital myasthenic syndrome: a case report

Summary: Congenital myasthenic syndromes (CMS) are diseases of the neuromuscular junction. They usually belong to the disease groups that begin in the infantile or childhood period and carry genetic characteristics. The following is important in establishing the diagnosis of this disease: clinical findings, electromyography, genetic tests, determination of serum acetylcholine receptor antibodies. Acetylcholine esterase inhibitor drugs are used in treatment of CMS. A seven-month old male patient was brought to our department with the complaints of difficult breathing, falling of the eyelids and swallowing difficulty. With clinical and laboratory findings, he was diagnosed with congenital myasthenia and treatment was started. CMS should be suspected in patients with no pathological findings on the physical examination, and normal chest X-rays.     

Drug-induced long-QT syndrome: a case report

An elderly psychiatric female patient with a long-lasting severe resistant depression was referred for medical examination because of gastrointestinal complaints. The ECG revealed a strongly extended QT interval. No other cardiological abnormalities were observed. The patient''s symptoms as well as the QT interval and biochemical abnormalities could be reduced by changing psychiatric drug treatment and reduction of concomitant medication.     

Prune perineum syndrome: report of a second case

A child is reported with a constellation of anomalies which include acetabular dysplasia with bilateral dislocated hips, persistent cloaca, hypoplastic kidney, two umbilical vessels, anal atresia and no obvious external genitalia. These anomalies are strikingly similar to a case reported by Peeden et al ('79) which was referred to as prune perineum. A discussion on possible underlying cause(s) of caudal dysplasia is included.     

Lemierre's syndrome: case report in a pediatric patient

Lemierre's syndrome was described in 1936 as a severe oropharyngeal infection followed by septic thrombophlebitis of the internal jugular vein and disseminated metastatic infections. Cases occur typically in previously healthy young adults and children. Fusobacterium necrophorum is the main anaerobic bacterium implicated. We present a septic 2-month-old infant with mastoiditis, multiple sites of osteoarthritis and multiple subcutaneous abscesses. No underlying anatomic or immunologic abnormalities were identified. Fusobacterium necrophorum was recovered from blood and bone samples obtained intraoperatively. Treatment included anaerobic coverage and drainage of septic foci. The patient was discharged home on 35th hospital day with oral amoxicillin-clavulanic acid and he recovered without sequelae. This was the first case of Lemierre's syndrome in our hospital. We want to highlight the absence of jugular vein thrombophlebitis, the presence of mastoiditis as previous infection and the surprising appearance of this infection in an edentulous 2-month-old infant.     

Pseudohypoaldosteronism: case report and discussion of the syndrome.

A 41-year-old man, complaining of leg cramps, was found to have persistent hyperkalemia. Except for mild hypertension, his physical examination and laboratory values to exclude connective tissue diseases and diabetes mellitus were normal. Renal function testing revealed a normal glomerular filtration rate and tubular capacity to acidify and dilute, as well as near-normal ability to concentrate his urine. Hormonal evaluation revealed a normal cortisol, as well as normal resting and stimulated renin and aldosterone levels. A selective defect in tubular potassium secretion was demonstrated. In the absence of aldosterone deficiency or renal dysfunction, it was assumed that the patient had primary renal resistance to aldosterone, known as pseudohypoaldosteronism. Treatment with hydrochlorothiazide controlled his hyperkalemia and hypertension. His case emphasizes the diagnostic and therapeutic factors that should be considered in evaluating and treating a non-hospitalized patient with sustained hyperkalemia.     

Patau syndrome with a long survival. A case report

Trisomy 13 is a clinically severe entity; 85% of the patients do not survive beyond one year, and most children die before completing six months of age. We report a female child, 28 months old, white, the fourth child of a non-consanguineous couple, who presented trisomy 13. The child was born at term, from a vaginal delivery, weighing 2600 g. At birth, she was cyanotic, icteric, spastic, and cried weakly. The initial clinical examination detected polydactyly in the left hand, congenital clubfoot and convex soles, ocular hypertelorism, a low nasal bridge, numerous hemangiomas distributed throughout the body, cardiomegaly, and perimembranous inter-ventricular communication. There was no cleft lip or palate. On physical examination at 18 months old, the child weighed 6,900 g, had a cephalic perimeter of 41 cm, a thoracic perimeter of 43 cm and was 76 cm tall. At 28 months, she weighed 10,760 g and was 88.5 cm tall. Neuropsychomotor development retardation was evident from birth and, according to the psychologist and the social assistant of APAE (Handicapped Parents and Friends Association) in Cangu?u, Rio Grande do Sul, there was a noticeable improvement after physiotherapy and recreational sessions.     

Amniotic band syndrome in a rhesus monkey: a case report

A rhesus monkey fetus was examined by ultrasound at 110, 111, and 113 gestational days (GD) and showed features suggestive of Amniotic Band Syndrome (ABS). These included an unusual craniofacial configuration, cortical distortion, asymmetrical hydrocephalus, a right occipital porencephalic cyst, and hydropic membranes with several free strands attached to the fetal head, neck, and scapular regions. The fetus remained fixed in the same position with the head retroflexed during each consecutive exam. A hysterotomy was performed and ABS was confirmed.     

Ovarian remnant syndrome in a Toy Poodle: a case report

Ovarian remnant syndrome was diagnosed in a 3-yr-old, female Toy Poodle presented with signs of estrus. The diagnosis was based on the clinical and laboratory changes in response to injection with hCG. The remnant of ovarian tissue was removed surgically under general anesthesia and the animal recovered uneventfully.     

Splenic lobulations in Bardet-Biedl syndrome: a first case report

Bardet-Biedl Syndrome (BBS) is a rare genetic disorder. It is considered to develop as a result of ciliary dysfunction. There are some clues about splenic expression of ciliary dysfunction. Therefore, splenic anomalies may be expected in BBS. We, here, describe a first case of BBS associated with splenic lobulations.     

Maffucci syndrome and soft tissue sarcoma: a case report

Background

Maffucci syndrome, a congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas, was first described in 1881, and 200 cases have been reported in the literature since then. Its etiology is unknown, there is no predilection for race or sex, and the development of lesions usually occurs in puberty. The risk of sarcomatous transformation is about 25%.

Case presentation

The initial investigation of the case reported here focused on the diagnosis and treatment of malignancy, and the first diagnostic hypothesis was thrombosed hemangioma. After histopathologic confirmation of soft tissue sarcoma, examinations were performed to stage the tumor and enchondromas were found in ribs. The final diagnosis was Maffucci syndrome with malignant transformation.

Conclusion

Treatment should aim at symptom relief and early detection of malignancies; no therapy is indicated for asymptomatic patients. As in the case reported here, bone or soft tissue lesions that grow or become painful should be biopsied.

     

Acro-cardio-facial syndrome associated with neuroepithelial cyst: a case report

Acro-cardio-facial syndrome (ACFS) is a very rare genetic syndrome. Only 5 patients have been reported in the literature so far. A female neonate presented with limb abnormalities, cleft palate and congenital heart disease was diagnosed as ACFS. Her cranial magnetic resonance imaging revealed a huge cerebral neuroepithelial cyst. To our knowledge, this is the first case of ACFS in the literature associated with a neuroepithelial cyst in the brain.     

Non-lethal Hallermann-Streiff syndrome with bone fracture: report of a case

The Hallermann-Streiff syndrome is characterized by bird-like face, micropthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature. We present a 35-day-old patient with the classical signs except cutaneous atrophy, additionally he had a healing fracture at the proximal part of the left radius.     

Johnson-McMillin syndrome: report of a new case with novel features

BACKGROUND: Johnson-McMillin syndrome (JMS) is a rare neuroectodermal disorder characterized by alopecia, ear malformations, conductive hearing loss, anosmia/hyposmia, and hypogonadotropic hypogonadism. It is inherited in an autosomal dominant manner; however, the causative gene has not yet been identified. CASE: Herein we report a patient with this condition who exhibits many of the features previously described, including alopecia, malformed auricles, conductive hearing loss, facial asymmetry, and developmental delays. Interestingly, she also has features that have not yet been reported, such as preauricular pits and tags, broad depressions at the lateral aspects of the eyes, and an abnormal left lower eyelid. CONCLUSIONS: In addition to demonstrating a pattern of anomalies consistent with JMS, this patient has several unique features. This phenotype supports the involvement of the branchial arches in the embryologic basis of this condition.     

Subcutaneous fascioliasis: a case report.

A 32-year old housewife, living in Seoul, recognized incidentally a painless mass at the left chest wall. During later 3 months, she experienced spontaneous swelling and regression of the mass repeatedly for 4 times. Surgical resection showed a granuloma at anterior serratus muscle containing a nearly matured adult of Fasciola species without vitellaria and uterus. This is the 11th human fascioliasis and the first extra-abdominal infection reported in Korea.     

Bilateral cortical blindness--Anton syndrome: case report

The aim of this work is the specify of rare neurological disorder, bilateral cortical blindness and Anton syndrome. It is about loss of vision in the presence of intact anterior pathways and a form of visual anosognosia, with resulting patient denial of blindness. This is a case of 72-year old man with history of diabetes and hypertension. Diagnosis is based on the exclusion of disease in the anterior visual tract by history and complete neuro-ophthalmological and radiological evaluation.