Iniencephaly and long-term survival: a rare case report

Introduction Iniencephaly, a neural tube defect involving occiput and inion and combined with rachischisis of the cervical, thoracic spine, and retroflexion position of the head is a very rare congenital abnormality of the fetus–newborn with a 0.1–10 of 10,000 prevalence. This abnormality’s prognosis is thought to be dismal. This abnormality can be associated with other abnormalities such as anencephaly, encephalocele, hydrocephalus, cyclopia, absence of the mandible, cleft lip and palate, cardiovascular disorders, diaphragmatic hernia, renal abnormalities, overgrowth of the arms compared to the legs, and club food and gastrointestinal atresia. Discussion Most of the patients are dead born, and the others die in a few hours. There are only six previously documented long-term survivors. In our case, our patient with iniencephalic signs and findings is still living. She is 2 years old now. We think that this patient presents a mild form of iniencephaly.     

Cerebellar abscess and syringomyelia due to isoniazid-resistant Mycobacterium tuberculosis.

A 19-year-old immunocompetent man was admitted to hospital with diplopia, nausea, vomiting and change in mental status. The patient had a history of tuberculous meningitis that was diagnosed at another hospital 6 months before the present admission, and at that time anti-tuberculosis treatment was initiated using a first-line drug combination. A computed tomography (CT) scan of the brain revealed non-communicating hydrocephalus. A ventriculo-peritoneal shunt was inserted surgically. Two months later, the patient was hospitalized again for fever, dysphagia and left hemiparesis. At that time, his cranial CT findings were within normal limits; however, magnetic resonance imaging (MRI) revealed an irregular multilocular peripheral contrast-enhancing lesion in the posterior fossa. The abscess was surgically drained. The presence of acid-fast bacilli in the abscess material was demonstrated by Ziehl-Neelsen staining. Mycobacterium tuberculosis grew on Lowenstein-Jensen culture medium, and the strain was found to be resistant to isoniazid. One month after the operation, the patient became quadriparetic. Cervical MRI revealed a cervico-thoracic syringomyelitic cavity, after which a syringoperitoneal shunt was placed. Treatment with four drugs was continued for 10 months, and then treatment with three drugs for a total period of 18 months. The patient recovered, with residual quadriparesis. Even though very rare, isoniazid-resistant M. tuberculosis may be the causative agent of progressive tuberculosis.     

Analysis of magnesium and trace elements in urinary calculi by atomic absorption spectrophotometry

Magnesium and trace element determinations in 29 urinary tract calculi were carried out using an atomic absorption spectrophotometric method. Of the calculi examined, 9 were pure calcium oxalate, 5 were mixed calcium oxalate/uric acid, 5 were mixed calcium oxalate/phosphate, 5 were magnesium ammonium phosphate and 5 were pure cystine. The measurement of magnesium and trace element levels has been considered useful in the elucidation of the mechanism of stone formation and the evaluation of factors leading to pathological consequences. In this study, the Mg, Zn, Cu, Fe, Cd and Pb content in all of the samples was determined and an attempt was made to compare the levels of these elements in calculi with the levels in normal hair.     

Relative nocturnal hypertension in children with insulin-dependent diabetes mellitus

Twenty-four-hour blood pressure and heart rate measurements were carried out in 14 newly diagnosed diabetics and in 28 diabetics with 5–13 years' duration of the disease; 8 healthy children were used as controls. Mean arterial blood pressure increased at night in 5, decreased slightly (less than 10%) in 5 and decreased markedly (more than 10%) in 18 diabetics with longer duration of the disease. The diurnal-nocturnal differences in heart rates were significantly lower in diabetics with relative "nocturnal hypertension" compared to the control group ( p < 0.05). A significant negative correlation was found between maximal arterial blood pressure during physical exercise and the diurnal-nocturnal differences in mean arterial blood pressure in diabetics ( r =−0.58; p < 0.02). In conclusion, we found elevated nocturnal blood pressure in a subgroup of children with longer duration of diabetes and without increased albumin excretion. However, longitudinal studies of blood pressure profiles are needed to identify the candidates for diabetic vasculopathy among diabetic children.     

Influence of calcium channel blocker drugs in neuromuscular transmission.

OBJECTIVE: Calcium channel blockers are commonly used in some cardiovascular disorders. These drugs can act at neuromuscular transmission, at both pre- and postsynaptic levels and may produce neuromuscular dysfunction. Therefore, they may result in misdiagnosis in electrophysiological testing of healthy subjects. This study aimed to investigate the influence of calcium channel blockers on neuromuscular transmission, using single fiber electromyography, in subjects who were healthy excepting controlled arterial hypertension condition. METHODS: Single fiber electromyography during voluntary contraction of the extensor digitorum communis muscle, nerve conduction studies of upper and lower extremities, and concentric needle electromyography of the extensor digitorum communis were performed on 16 verapamil users, 16 amlodipine users, and 16 age-matched normal controls. Twenty potential pairs were recorded from each subject. Twenty individual jitter values and a mean jitter value were calculated for each subject. Both mean jitter values and numbers of abnormal individual jitter values were compared in verapamil and amlodipine users versus normal controls. RESULTS: Eight of 16 verapamil users and 7 of amlodipine users showed evident neuromuscular transmission abnormalities by single fiber electromyography. Two subjects from verapamil and one subjects from amlodipine users group had borderline dysfunction of neuromuscular transmission. CONCLUSIONS: These results suggest that both verapamil and amlodipine impair neuromuscular transmission in subjects without neuromuscular disease. SIGNIFICANCE: The effects of verapamil and amlodipine are at a level, which may cause misinterpretation of single fiber electromyography studies carried out to investigate neuromuscular junction disorders.     

Comparison of the effects of acarbose and metformin use on ovulation rates in clomiphene citrate-resistant polycystic ovary syndrome

BACKGROUND: The aim of this study was to evaluate the effects of metformin and acarbose on insulin resistance, hormone profiles and ovulation rates in patients with clomiphene citrate-resistant polycystic ovary syndrome (PCOS). METHODS: Thirty clomiphene citrate-resistant patients were selected randomly and divided into two groups. Group I was treated with 100 mg/day clomiphene citrate and 300 mg/day acarbose 100 mg/day orally, for 3 months. Group II was treated with clomiphene citrate 100 mg/day and metformin 1700 mg/day orally, for 3 months. Serum fasting insulin and glucose, FSH, LH, estradiol, progesterone, prolactin and total testosterone levels plus body mass index (BMI) were measured before and after treatment. Follicle growth was followed by transvaginal ultrasonography. RESULTS: LH:FSH ratio and total testosterone concentrations decreased (P<0.05) and ovulation rates increased in both groups. Reduction in weight and BMI was only significant in the acarbose group. CONCLUSIONS: Both treatment modalities were effective in the treatment of insulin resistance and improving ovulation rates. Increase in the number of eumenorrhoeic and normoinsulinaemic cases and decrease in the number of insulin-resistant cases were significant in both groups (P<0.05). Ovulation rate was greater in the metformin group in the second month of therapy (P<0.05). Acarbose was found to be a safe and effective agent that could be used in cases with clomiphene-resistant PCOS.     

Huge colloid cyst of the third ventricle associated with calcification in the cyst wall

Giant or huge colloid cysts of the third ventricle up to of more than 3 cm in diameter are extremely rare. The patient presented with symptoms of increased intracranial pressure, including headache, vomiting, and papilledema. Computerized tomographic (CT) scan revealed a hypodense, huge colloid cyst of the third ventricle associated with calcification in the cyst wall. Both hypodensity and calcification are uncommon roentgenological findings for colloid cysts of the third ventricle. The patient was operated on by the transcortical/transventricular approach and the colloid cyst was completely excised.