Elevated B-lymphocyte levels in lesional tissue of non-arthritic psoriasis.

Psoriasis is a chronic inflammatory skin disorder characterized clinically by maculopapular skin lesions and on the cellular level by increased T-lymphocyte activation in the peripheral blood and migration of activated T-lymphocyte into the lesions. The lymphocyte subpopulations in peripheral blood from 21 Kuwaiti patients showed elevated levels of the T-lymphocyte activation marker CD25, as well as increased expression of HLA-DR compared with a group of age and sex-matched controls, confirming published findings on psoriasis. In addition, there was a tendency towards a significant increase in the CD4+/CD45RO+ (memory cell) population that was also consistent with peripheral T-lymphocyte activation. Immunohistological studies showed a heavy infiltrate of all cell types into the lesional tissue including, as expected, activated T-lymphocytes. An unexpected finding was significantly higher levels of B-lymphocytes infiltrating the psoriatic lesions; they numerically exceeded the T-lymphocyte infiltrate. This has previously been reported only in cases of psoriasis with concurrent arthritis. None of the subjects had arthritis, suggesting an immunopathological variant of psoriasis possibly specific to this population group.

beta-Thalassaemia major in Kuwait.

A combined retrospective and prospective study of 129 beta-thalassaemia major patients seen between 1965 and 1995 in Sabah Hospital, Kuwait has been carried out. The age range at diagnosis was 2 to 84 months, median 9 months. In approximately 80 per cent, the patients were outcomes of first- or second-cousin marriages. Nine (7 per cent) of the patients were HBsAg positive, while 42 (33 per cent) were hepatitis C seropositive. Eleven (9 per cent) patients had had bone marrow transplantation (BMT). There was no BMT-related mortality, but there were three graft rejections and two cases of chronic graft-versus-host disease (GVHD).

Peripheral T-cell activation in non-segmental vitiligo.

Vitiligo is a hypopigmentary dermatosis of probable autoimmune origin. Previously reported aberrations in peripheral blood mononuclear cells (PBMC), especially T cells and T cell subsets, have been inconsistent. Lymphocyte subpopulations were examined using flow cytometry and monoclonal antibodies against CD4, CD8, CD20, CD25, CD45RA, and HLA-DR in 34 patients with non-segmental vitiligo. Twelve patients had not received any previous treatment and 22 had previously received at least one course of PUVA therapy that was discontinued at least four months prior to our study. Compared to matched controls, we found significant increases in CD25 and HLA-DR in vitiligo patients (p = 0.000). An inverse correlation was observed between HLA-DR and patient status with regard to treatment (p = 0.001). These results suggest a role for T cells in the pathogenesis of vitiligo and imply that previous PUVA therapy may be reflected by an alteration in circulating DR +ve cells.

An epidemiologic, clinical, and therapeutic study of childhood Guillain-Barré syndrome in Kuwait: is it related to the oral polio vaccine?

We studied Guillain-Barré syndrome, affecting children 12 years old or less, throughout Kuwait, in the period between January 1, 1992, and March 31, 1997. Nineteen children had the diagnostic criteria of Guillain-Barré syndrome, with an overall annual incidence rate of 0.95/100,000 population at risk. Female patients outnumbered male patients with a sex ratio of 1.4:1. There was a clustering of cases in winter and spring and in the year 1996. The disease symptoms were relatively severe in our patients because only 16% (3 of 19) of them were able to walk at the height of their illness, whereas the rest were bed or chair bound or needed assisted ventilation. Two patients had the electrodiagnostic features of axonal neuropathy and both had residual deficits on follow-up, whereas the rest recovered fully. All the patients received intravenous immunoglobulin. The mean time to walk unaided was 23.5 days (range, 2-84 days) after intravenous immunoglobulin and excluding the two patients with axonal neuropathy, and full recovery was achieved in a mean time of 103 days (range, 30-300 days). Contrary to previous studies, we found no correlation between oral polio vaccine administration and Guillain-Barré syndrome in 2 successive years (1995 and 1996) during a nationwide campaign targeting children less than 5 years old.

Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.

We report four sibs with Kenny-Caffey syndrome in a consanguineous Bedouin family. The first two died in the neonatal period while the remaining affected brother and sister had all the characteristic clinical, biochemical, and radiological abnormalities of the syndrome. These included severe pre- and postnatal growth retardation, cortical thickening of the tubular bones with medullary stenosis, eye abnormalities, facial dysmorphism, hypocalcaemia, and low levels of parathyroid hormone. The children also showed intracranial calcification, impaired neutrophil phagocytosis, increased proportion of B lymphocytes, reduced CD4 and CD8 subpopulations of T lymphocytes, and inhibited transformation in response to Candida antigen. Fluorescence in situ hybridisation (FISH) was applied to blood lymphocyte metaphase spreads from these two Bedouin sibs and their parents using probe D22S75 (Oncor), specific for the DiGeorge critical region on chromosome 22q11.2. The presence of 22q11.2 haploinsufficiency was identified in the affected sibs, which was transmitted from the phenotypically normal mother. The present report widens the spectrum of CATCH 22 microdeletion to accommodate Kenny-Caffey syndrome.

Non-haematological traits associated with congenital dyserythropoietic anaemia type 1: a new entity emerging.

Dysmorphic features in three sibs with congenital dyserythropoietic anaemia type 1 are described. These findings include growth retardation/short stature, congenital ptosis, abnormal tarsal bones, metatarsal duplication/hypoplasia, nail/phalangeal hypoplasia of fingers and toes, Madelung deformity, syndactyly of toes, and hallux valgus. The patients also showed a very low mitotic index of their peripheral blood lymphocyte cultures. Phenotypic heterogeneity was elicited amongst the three Bedouin sibs. The present report confirms the association between a subset of congenital dyserythropoietic anaemia type 1 and a specific form of distal limb anomalies and suggests that other traits, congenital ptosis and low mitotic index, could represent part of the syndrome profile.

Genotypic/phenotypic heterogeneity of selective vitamin B12 malabsorption (Grasbeck-Imerslund syndrome) in two Bedouin families.

We report on seven patients in two unrelated consanguineous Bedouin families with Grasbeck-Imerslund syndrome. Pedigree analysis in Family 1 was suggestive of an X-linked mode of inheritance. Intra- and inter-familial heterogeneity was elicited among the affected children in both families. Two of the affected sibs in each family had raised Hb A2 (>4%) while a third in Family 1 had a raised level of Hb F before treatment. One of the patients developed subacute combined degeneration of the cord at the age of 17 years before the correct diagnosis was made. All abnormalities were corrected following the institution of parenteral cobalamin therapy.

Another Arab patient with overlap of Váradi-Papp/Opitz trigonocephaly syndromes?

We describe a Bedouin boy with multiple congenital anomalies/mental retardation (MCA/MR). He has frontal bossing, ridged metopic suture, bilateral ptosis, right squint, depressed nasal bridge, small nose, anteverted nostrils, lobulated tongue, polydactyly of both hands, microphallus, hypoplastic scrotum, microtestes, dysgenesis of corpus callosum, and a Dandy-Walker variant. This phenotype overlaps both the Varadi-Papp syndrome (OFD VI) and Opitz trigonocephaly (C syndrome). This phenotypic overlap is discussed in light of the concept of splitting and lumping in genetic diseases.

Febrile urinary tract infection in children: Role of 99MTc-dimercaptosuccinic acid (DMSA) scan and other imaging techniques.

Fifty children (37 females and 13 males) with first febrile urinary tract infections were studied to assess the value of 99MTc-dimercaptosuccinic acid (DMSA) scan in detecting inflammatory changes of acute pyelonephritis (APN). These findings were compared with renal ultrasonography (US). We also evaluated the reliability of clinical and laboratory observations in diagnosing acute pyelonephritis (APN). All children had micturating cystourethrography (MCUG). DMSA-documented acute pyelonephritis was present in 29 (58%) patients. Only four children (8%) demonstrated changes suggestive of APN on renal ultrasonography. Vesicoureteric reflux (VUR) was documented in 17 (47%) of the total group and in 13 (45%) of those with abnormal DMSA scan. Follow-up DMSA scan in 15 children with initial abnormal findings showed complete recovery in seven (47%). Our data have shown that DMSA renal scan is the most useful investigational procedure in children with febrile UTI. The diagnosis of APN, depending on clinical and laboratory data, is unreliable. Renal US alone can miss serious renal defects. MCUG remains the most sensitive procedure to detect VUR and it should be performed in all children with UTI and abbormal DMSA scan. Early detection of acute pyelonephritis allows the prompt introduction of antimicrobial agents in those children and can prevent or decrease renal damage and its complications.

Right upper limb bud triplication and polythelia, left sided hemihypertrophy and congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis: disorganisation-like spectrum or patterning gene defect?

A Somali female baby with right upper limb triplication, polythelia, left sided hemihypertrophy, congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis is described. It seems that the above described pattern of anomalies has not been reported before. The possible developmental genetic mechanism responsible for this phenotype is briefly discussed.

HLA antigens in Arab children with steroid-responsive nephrotic syndrome.

Forty-eight Arab patients with steroid-responsive childhood nephrotic syndrome were studied for the frequency of HLA-A, -B, -C and -DR antigens. HLA-DR7 was significantly increased in the patient group (63% vs. 28%, P = 0.0002) confirming reports of a DR7 association in other ethnic groups and indicating a universal association with this antigen. HLA-CW6 was also significantly increased (44% vs. 21%, P corr. = 0.042). HLA-DQW1 was significantly reduced in the patients (29% vs. 57%, P corr. = 0.012) as was HLA-CW4 (6% vs. 24%, P corr. = 0.042).

Cutaneous leishmaniasis in Kuwait. Clinical experience with itraconazole.

Twenty-four patients suffering from single or multiple lesions of cutaneous leishmaniasis were included in this study. Most of the lesions were on the extremities. The patients were randomly divided into two groups. Most of the patients in the first group who were given oral itraconazole for a period of 6-8 weeks showed excellent clinical response. On the other hand, only one patient in the second control group who was given placebo showed good clinical improvement. Systemically administered itraconazole may prove to be a valuable modality for the treatment of cutaneous leishmaniasis.

Clinical report of Blastocystis hominis infection in children.

During a 9-month hospital-based survey, the intestinal parasite Blastocystis hominis was detected in high numbers (five or more organisms per oil immersion field) in faecal specimens from 39 (2%) of 1960 children under 13 years old. Abdominal pain or discomfort with or without diarrhoea was present in 32 children categorized as acute (14), subacute (7) or chronic (11) cases with respective mean ages of 6.4, 7.3 and 8.7 years. They included three with other enteropathogens (Giardia lamblia, Cryptosporidium sp. or Hymenolepis nana). The remaining seven children had no gastrointestinal symptoms. The 14 acute cases (symptoms duration 1-11 days) were characterized by cramp-like abdominal pain, watery diarrhoea and vomiting. The seven subacute (3-4 weeks) and 11 chronic (3-12 months) cases presented with abdominal discomfort and/or loose non-watery stools. Four complained of flatus and eosinophilia was noted in six. All symptoms resolved with eradication of B. hominis or reduction to low numbers after metronidazole chemotherapy (28 cases) or with no treatment (four cases). This study would appear to support the role of the parasite as an enteropathogen in some children. A case control study is clearly needed to clarify the status of B. hominis as a pathogen.

Trends in pediatric casualties in a regional hospital of Kuwait.

The purpose of this study was to statistically analyze the emergency care services of the Paediatric Department of Farwania Hospital, Kuwait. The study was conducted from 1 July 1987 until 30 June 1988, during which a total of 77,497 cases were recorded (41,594 [53.7%] males; 35,903 [46.3%] females). Kuwaiti children represented 40,738 (52.5%) of the total. Children aged 2 to 5 years constituted 22,805 (29.4%) of the cases, and the age group 1 month to 1 year comprised the second largest group (15,475; 19.9%). Admissions peaked in February (8,425 [10.8%]) and Friday was the busiest day (13,561 [17.5%]). There were 61,242 (79.02%) self-referrals. Respiratory diseases were the most common reason for emergency room visits, and totaled 51,583 (66.5%), followed by gastroenteritis with 19,898 (25.7%). This study points up an alarming increase in the number of visits to the casualty clinics of Farwania Hospital. If this increase continues, this will not only markedly increase the burden to staff but will also adversely affect the quality of services.

Cystic fibrosis and Helicobacter pylori gastritis, megaloblastic anaemia, subnormal mentality and minor anomalies in two siblings: a new syndrome?

Two siblings of consanguineous Arab parents were found to have cystic fibrosis and gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anaemia, subnormal mentality and minor anomalies. The association of H. pylori and megaloblastic anaemia has not been described in patients with cystic fibrosis. H. pylori infection and gastritis is probably more common in patients with cystic fibrosis than appreciated. We believe that the constellation of features in the two sibs represent a possible new autosomal recessive cystic fibrosis-like syndrome.