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Biomedical subjects

H Caksen

Publications and source records attributed to H Caksen.

At least 37 records · Page 2Linked to original sources
PubMed2003

A Turkish case of subcortical/subependymal heterotopia associated with corpus callosum dysgenesis, craniofacial dysmorphism, severe eye abnormalities, and growth-mental retardation.

The patient is a 12-year-old boy with a history of learning disability, growth retardation, and strabismus. Weight, height and head circumference were below the 3rd percentile. A café-au-lait spot, 1x1 cm a diameter, on the back region and pectus excavatum deformity were diagnosed. He had facial asymmetry, a broad nose, sparse eyebrows and eyelashes, a rudimentary frontal sinus, deviation of the nasal septum, and bilateral small maxillary bones. The left orbital fossa was also mildly rudimentary. On eye examination the movements of the left globe to the upward and lateral side were limited and internal strabismus was noted at this side. Visual acuity was 1/10, bilaterally. Bilateral choroid coloboma, glaucoma, vertical and horizontal nystagmus were diagnosed. Fundoscopic examination revealed bilateral optic atrophy and macular and paramacular granulation tissues on the left side. Intelligence quotient was 46. Electroencephalography revealed bilateral frontal slow-wave activity. Visual evoked potential revealed prolonged p100 wave latencies bilaterally. Magnetic resonance imaging of the brain demonstrated corpus callosum dysgenesis, bilateral subcortical heterotopia in the frontal lobes and subependymal heterotopia in the posterior horn of the left ventricle. Chromosomal analysis revealed a normal male karyotype, 46, XY. Although several cases of heterotopia in association with mental retardation, craniofacial dysmorphism, cerebral, and eye abnormalities have been described the combination of abnormalities diagnosed in our case has not previously been reported. We hypothesize that the combination of subcortical/subependymal heterotopia, corpus callosum dysgenesis, craniofacial dysmorphism, severe eye abnormalities, and growth-mental retardation may be a new syndrome.

Abnormalities, Multiple↗
PubMed2003

Report of five children with Guillain-Barré syndrome following a nationwide oral polio vaccine campaign in Turkey.

Five children with Guillain-Barré syndrome (GBS), following a national oral polio vaccination campaign to eradicate disease, are reported. Clinical examination, cerebrospinal fluid and electromyographic findings conformed to the classical description of GBS. Four of them received therapeutic dose of intravenous immunoglobulin G. Two children succumbed to the disease. It was observed that the number of cases of GBS in children increased during the period of the oral polio vaccination campaign in Turkey, suggesting a causal relationship.

Child, Preschool↗
PubMed2002

Ophthalmo-acromelic syndrome in a Turkish infant: case report.

Ophthalmo-acromelic syndrome (OAS) is an extremely rare autosomal recessive disorder characterised by eye malformations ranging from true anophthalmia to mild microophthalmia and acromelic malformations. In this article, we report a newborn infant with OAS because of its rare presentation. He was the fourth sibling affected in the family. The parents were healthy but there was a close blood relationship between the parents. Physical examination revealed bilateral true anophthalmia and oligodactyly (bilateral four toes) on the feet. He had no other additional abnormalities. We consider that this rare syndrome could be relatively more common in our country because six Turkish cases of OAS have been reported in the English literature to date.

Abnormalities, Multiple↗
PubMed2002

A case of Allgrove (Triple A) syndrome associated with renal ectopia.

Allgrove syndrome (triple-A syndrome) is an autosomal recessive disorder characterized by adrenocorticotropin hormone-resistant adrenal insufficiency, achalasia and alacrima. Aside from the classic features of the syndrome, several abnormalities including mainly neurological abnormalities have been reported in the syndrome. Herein, we presented a case of Allgrove syndrome associated with left renal ectopla. To the best of our knowledge renal abnormality in Allgrove syndrome has not been reported in the literature until now. We think that ectopic kidney diagnosed in our patient is coincidental because the incidence of renal ectopia is high, approximately 1 in 900 in population.

Adrenal Insufficiency↗
PubMed2002

A case of Melkersson-Rosenthal syndrome associated with Ehlers-Danlos syndrome.

Melkersson-Rosenthal syndrome (MRS) is characterized by the triad of recurrent facial palsy, lingua plicata, and facial edema. Herein, we report a case of MRS associated with Ehlers-Danlos syndrome due to rare presentation. To the best of our knowledge only one case of MRS associated with Ehlers-Danlos syndrome has been reported in the literature until now.

Child↗
PubMed2002

Atypical benign partial epilepsy of childhood (pseudo-Lennox syndrome): report of two brothers.

Two brothers (3 and 2 year old) with characteristic findings of atypical benign partial epilepsy of childhood (pseudo-Lennox syndrome) are reported, to emphasize the presence of a possibility of a genetic basis of this disorder and the importance of intravenous immune globulin (IVIG), vigabatrin (VGB) and lamotrigine (LTG) therapy. Sleep EEGs of both the patients showed typical features of Lennox-Gastaut syndrome. On follow-up, the convulsions were found to be resistant to numerous antiepileptic agents in one patient while they were easily controlled with LTG monotherapy in the other patient. In the elder brother, who was diagnosed as intractable epilepsy, the convulsions disappeared with IVIG and VGB. During the long term follow-up, they were seizure free for five and two years respectively, and their mental motor development was excellent.

Anticonvulsants↗
PubMed2002

Serum lipids, vitamin B12 and folic acid levels in children receiving long-term valproate therapy.

In this study, serum triglyceride, total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), very low-density lipoprotein cholesterol (VLDL-C), vitamin B12 and folic acid levels were studied in children with epilepsy who had been receiving long-term valproate (VPA) therapy. Our purpose was to determine that whether or not there was any affect of VPA therapy on serum lipids, vitamin B12 and folic acid levels. The study includes 26 patients (13 males, 13 females) with epilepsy who had been receiving long-term VPA therapy and in 28 healthy children (14 males, 14 females). The age ranged from 14 months-12 years (8.22 +/- 3.64 years) and 9 months-18 years (8.97 +/- 4.85 years) in the study and control group, respectively. Because serum lipid ranges may be changed according to the age groups in childhood, the children were divided into three groups as follows; younger than < 5 years, between 5-10 years, and older than > 10 years. The duration of VPA use was between 10 months and 7 years (1.83 +/- 1.80 years). Serum VPA level changed between 42-108 micrograms/ml (75.09 +/- 21.42 micrograms/ml). When comparing the results we did not find any significant difference in all parameters including lipid profiles, vitamin B12 and folic acid levels between the groups (P > 0.05). Additionally, we did not find any correlation between lipid profile and age at start of therapy, duration of therapy, serum VPA level (P > 0.05). In conclusion, our findings showed that VPA therapy did not change serum lipids, vitamin B12 and folic acid concentrations; therefore, we suggest that VPA may be safely used with regard to lipid composition, vitamin B12 and folic acid levels in childhood epilepsy.

Anticonvulsants↗
PubMed2001

Mobius syndrome associated with ventricular septal defect.

We report a 10-year-old boy with Mobius syndrome (MS) associated with ventricular septal defect who was delivered after an unsuccessful curettage before the 10th week of gestation. Methylergobasine which is an ergot alkaloid was also applied during the curettage procedure. Despite of the curettage procedure, the pregnancy was continued and he was delivered. His developmental milestones were delayed. On account of this case, we think that direct mechanical fetal trauma and vasoconstriction or both may cause MS. But, further extensive studies are needed to verify this hypothesis.

Child↗
PubMed2001

Masturbation mimicking seizure in an infant.

A 3.5-month-old boy was referred to our hospital with the diagnosis of infantile spasm. His developmental milestones and physical examination were normal. During the follow-up we recorded about six to nine attacks a day and the duration of attacks was changed between 15 seconds-1.5 minutes. During the episodic attacks he was flushed and had tonic posturing associated with crossing of thighs, without loss of consciousness and his eye movements were normal. Routine and long-term electroencephalogram (EEG) were normal during attack. The patient was diagnosed as masturbation according to the clinical and EEG findings. In conclusion, we would like to stress that masturbation should also be considered in infants who were admitted with complaint of seizure, and aside from EEG monitoring a detailed history and careful observation are very important factors in differential diagnosis of these two different conditions.

Diagnosis, Differential↗
PubMed2001

Lamotrigine in two cases of Rett syndrome.

Rett syndrome (RS) is a particular neurodevelopmental disorder in which symptoms develop in early infancy and manifests particular symptoms at certain ages. Two girls aged 4.5 and 2.5-years-old were admitted with complaints of seizures, regression of language, psychomotor development, and autistic behavior. They had fulfilled the criteria of classic RS. Lamotrigine was used in the treatment of the convulsions. After lamotrigine therapy, the convulsions were successfully controlled and the stereotyped hand movements and autistic behaviors markedly decreased. We would like to stress that, aside from convulsion, abnormal signs of the syndrome such as stereotyped hand movements and autistic behaviors might also be improved with lamotrigine, but detailed and controlled studies should be performed to identify whether lamotrigine has any positive effects in RS.

Anticonvulsants↗