Adie's syndrome in childhood

An 8-year-old girl with a history of mild amblyopia who had occlusion therapy, but her anisocoria went unnoticed, was studied. Old photographs of the patient were reviewed and a 0.1% pilocarpine test was performed. Review of her old photographs suggested that she had anisocoria at least since she was 3 years old. The 0.1% pilocarpine test confirmed a diagnosis of Adie's syndrome. In light of this case, it must be kept in mind that though rare, Adie's syndrome can be encountered in early childhood.     

TRICHOTILLOMANIA: A TRICHOTILLOSIS, A TRICHOTILLOTIC, OR A TIC TRICHOTILLOSIS

A 35-year-old Pakistani man working in Saudi Arabia was referred to the Dermatology Clinic, King Fahd Hospital, AlBaha for the evaluation of patches of hair loss from the beard and moustache (Fig. 1). The patches were of 4 years' duration and asymptomatic. The patient was married and had one child. His family was living in Pakistan, but there were no relevant problems, marital or otherwise, and he was happy at work. He spent his vacations back at home with his family. Past history of hair loss was negative. He appeared stable, relaxed, and reasonably dressed and did not manifest psychotic or psychoneurotic features. On the chin there was a well-demarcated patch of alopecia on which broken-off hair and hair of varying lengths were present. There was no scarring or inflammatory signs. Similar patches were seen on the peripheral parts of the moustache. The nails and rest of the skin were normal. A diagno-sis of trichotillomania was made and discussed with the patient. He acknowledged the self-induced nature of his hair loss and admitted to be habitually indulging in it.     

Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness (DIDMOAD Syndrome): A Clinical Study in Two Sudanese Families

ABSTRACT. Four Sudanese children with DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness) are reported. They were two boys (aged 15 and 16 years) in one family and a boy and a girl (aged 16 and 6 years, respectively) in another family. Diabetes mellitus was first to appear (at 3–8 years) followed by deafness and visual failure; and the disease ended fatally in one patient (aged 20 years). In the other three, diabetes insipidus was confirmed using water deprivation test for 8 hours. The maximum urine osmolality ranged between 131–523 mOsm/kg, whereas the corresponding plasma osmolality ranged between 315–332 mOsm/kg. Slight further improvement in urine concentration was observed in 2 of the patients following the use of desmopression (DDAVP, 20 μg intranasally). Intravenous pyelography, voiding cystourethrography and ultrasound revealed severe bilateral hydronephrosis, dilated ureters and distended bladder without vesicoureteral reflux in the three patients. With the high rate of consanguinity prevalent in North Africa and the Middle East, we recommend examining children who present with diabetes mellitus in this region for features of DIDMOAD syndrome.     

A CLINICAL, SEROLOGICAL AND NEUROPHYSIOLOGICAL STUDY OF RESTLESS LEGS SYNDROME IN RHEUMATOID ARTHRITIS

The restless legs syndrome (RLS), defined by Gibb and Lees criteria,was investigated in patients with RA. RLS symptoms were morefrequent in RA patients (25%) than in non-RA controls with OAor seronegative arthropathy (4%). RLS was significantly morecommon in females. Judged by a variety of clinical and laboratoryindices, RA disease severity and current disease activity weregreater in patients with RLS than in RA patients unaffectedby RLS. In five out of 14 RLS patients undergoing neurophysiologicalstudy, delays in the P₄₀ component of posterior tibial somatosensoryevoked potentials (SSEPs) were observed suggesting the existenceof myelopathy, whilst in another four RLS patients evidenceof peripheral neuropathy was found. Though the higher frequencyof neurophysiological abnormalities in RA patients with RLSwas not statistically significant, possibly because of the smallnumbers of patients studied, these data suggest that RLS symptomsin RA may reflect the presence of neurological disorder. KEY WORDS: Rheumatoid arthritis, Restless legs syndrome, Clinical features, Laboratory indices, Neurophysiology     

Protective effects of trapidil in ischemia–reperfusion injury due to testicular torsion and detorsion: An experimental study

OBJECTIVE: We aimed to detect the preventive effects of trapidil in ischemia-reperfusion (IR) injury due to testicular torsion and detorsion. METHODS: Forty prepubertal albino rats were used. In the IR group, torsion was created by rotating the left testis over 2 h, and detorsion was done by untwisting the testis. Bilateral orchiectomies were performed after 4 h. In study group, 2-h torsion was performed and trapidil was administered as a single dose 1 h before detorsion. Bilateral orchiectomies were performed after 4 h. In the sham group, a sham operation was done. In the sham plus trapidil group, a sham operation was done and trapidil was administered as a single dose. Testicular tissue malondialdehyde (MDA), nitric oxide (NO) and total sulfhydryl (T-SH) levels were determined for each group. The grades of interstitial injury were determined in histopathologic examination. RESULTS: The NO and MDA levels in the IR group were significantly higher than the study, sham and sham plus trapidil groups in the left testis (P<0.05, P<0.001 and P<0.001, respectively). A statistical difference was not found among study, sham and sham plus trapidil groups in the left testis in NO and MDA levels (P>0.05). The T-SH level in the study group was significantly higher than in the IR, sham and sham plus trapidil groups in left testis P<0.05). In the IR group (left testis), grade 1 interstitial injury was 30% (3/10), grade 2 injury was 60% (6/10) and grade 3 injury was 10% (1/10). In the study group (left testis), grade 1 interstitial injury was 30% (3/10) and there was no injury in 70% (7/10). CONCLUSION: Trapidil decreased free oxygen radical formation in testicular torsion and detorsion, and attenuated histopathological damage in the ipsilateral twisted testis.     

Hypercalciuria in renal glucosuria

Primary renal glucosuria is a benign condition in which serum glucose level is normal. Idiopathic hypercalciuria is defined as increased urinary calcium excretion of more than 4 mg/kg/day in normocalcemic individuals in whom all known causes of hypercalciuria have been excluded. In this paper, we report on a case who has both renal glucosuria and hypercalciuria.     

Postoperative anorectal manometric evaluation of patients with anorectal malformation

BACKGROUND: Fecal incontinence is a common problem after reconstructive surgery for anorectal malformations. The aim of this study was to investigate the effectiveness of clinical scores and anorectal manometry in patients, who have been operated on for anorectal malformations. METHODS: In total, 18 patients who underwent surgery for anorectal malformation between 1999 and 2004 were investigated for anal continence. For the assessment of the patients' continence, Kelly's clinical scoring, Kiesewetter-Chang scoring, and anorectal manometry were used. RESULTS: In the intermediate level anorectal malformations, average anal resting pressure was found as 58.16 +/- 8.14 cmH(2)O and in high level anorectal malformations was found as 40.16 +/- 17.4 cmH(2)O. In the continence score, good according to Kelly and Kiesewetter-Chang scoring systems was an average anal resting pressure value of 57.92 +/- 8.57 cmH(2)O and in fair or bad was found as 32 +/- 12.83 cmH(2)O. There were significant differences between the scoring systems anorectal malformation level, and average anal resting pressure values (P < 0.05). CONCLUSIONS: Anorectal manometric evaluation of the patients in postoperative period with anorectal malformation can give more realistic information about the patient continence status in anorectal malformations.     

Atypical hemolytic uremic syndrome

The pathogenesis of atypical uremic syndrome (HUS), which is rarely encountered in childhood, is poorly understood and its mortality and morbidity rates are high. A wide variety of therapeutic approaches has been attempted and the literature contains numerous conflicting reports about the results of these approaches. In a case diagnosed as recurrent atypical HUS, pulse methyl prednisolone, fresh frozen plasma infusions and plasma exchange transfusion were used at different stages of the disease with satisfactory response.     

Therapeutic effect of spiramycin in brucellosis

OBJECTIVE: This study was undertaken to investigate the usefulness of spiramycin in treatment for brucellosis in an animal model. METHODS: Eighty-four Sprague-Dawley rats were infected by intraperitoneal injection of Brucella melitensis suspension. Seven days after inoculation, four rats were selected randomly, killed and spleen cultures and Brucella standard tube agglutination test were carried out. All four rats were found to be infected. Eighty adult rats were randomly divided into four groups of 20 rats each. Tap water was given to the first group. Rifampicin 50 mg/kg per day and doxycycline 40 mg/kg per day were given to the second group, spiramycin 50 mg/kg per day orally was given to the third group, and a combination of spiramycin and rifampicin at the same dose and period was given to the fourth group. Duration of therapy regimens in all groups was 21 days. The spleens of all 80 rats were removed aseptically, homogenized, and placed onto Brucella agar plates to determine if viable bacteria were present. RESULTS: Bacterial growth occurred in all of the rats' spleens in the first group and in two rats' spleens in the spiramycin group. Mean colony forming unit (c.f.u.) values were at the highest in the first group. The effectivities of spiramycin and rifampicin-spiramycin were similar to rifampicin-doxycycline. There were no differences in the treatment results between the three groups that received combined rifampicin-doxycycline, rifampicin-spiramycin and only spiramycin (P>0.05). CONCLUSIONS: The results show that spiramycin cures experimental rat brucellosis and may be an effective alternative in the therapy of human brucellosis.