PubMed Health⌕ Search

Biomedical subjects

H Caksen

Publications and source records attributed to H Caksen.

At least 19 recordsLinked to original sources
PubMed2004

A case of metastatic spinal Ewing's sarcoma misdiagnosed as brucellosis and transverse myelitis.

An 11-year-old girl was admitted with back pain for 2 months, inability to walk for 15 days, and enuresis and encopresis for 2 days. She had been hospitalized with the diagnosis of brucellosis in another hospital. At presentation, she had paraplegia, sphincter dysfunction, and bilateral sensory loss below the T6 level, and was initially diagnosed with transverse myelitis caused by brucellosis. On the third day of hospitalization, however, agglutination test for brucella was negative, but it was positive for Salmonella. Therefore, transverse myelitis was considered to be due to salmonellosis. Thoracic spine magnetic resonance imaging showed an extradural, paraspinal mass at the level of T6-T7. The mass was totally extracted, and histopathological examination revealed Ewing's sarcoma. During follow-up, no improvement in paraplegia was noted and an enlarged presacral decubital ulcer developed. Aside from supportive care, local radiotherapy was applied. Unfortunately, the patient died from probable infection 9 months after the diagnosis. We emphasize that metastatic spinal Ewing's sarcoma may mimic brucellosis and transverse myelitis in childhood.

Brucellosis↗
PubMed2004

Report of two Turkish infants with Norman-Roberts syndrome.

Lissencephaly or agyria refers to a rare disorder that is characterized by the absence of cerebral convolutions and a poorly formed sylvian fissure, giving the appearance of a 3-4 months old fetal brain. At present more than 25 dysmorphology syndromes with lissencephaly or other disorders of neuronal migration have been described. In 1976, Norman et al. reported on two patients with lissencephaly type I and short, sloping forehead, an atypical phenotype for Miller-Dieker syndrome, a more common lissencephaly syndrome. In this article, we report two Turkish female infants whose abnormal findings were consistent with Norman-Roberts syndrome because of their very rare presentation. Both patients had typical cranio-facial abnormalities and abnormal magnetic resonance imaging findings, but no deletion in 17p13.3 for Miller-Dieker syndrome. In addition to the typical findings of Norman-Roberts syndrome, case 1 had atrial septal defect, corpus callosum agenesis, intracranial widespread calcification and case 2 had bilateral macular cherry-red spot, persistent foramen ovale, increased blood level of C6 hexanoylcarnitine, cavum septum pellucidum vergae anomaly and cerebellar atrophy. In conclusion, we would like to emphasize that Norman-Roberts syndrome should also be considered in infants with lissencephaly. A detailed physical examination, chromosomal and fluorescence in situ hybridization (FISH) analysis to exclude a deletion in 17p13.3 should be performed for the definite diagnosis of the syndrome.

1-Alkyl-2-acetylglycerophosphocholine Esterase↗
PubMed2004

Do not overlook Weismann-Netter syndrome in differential diagnosis of skeletal dysplasias.

Weismann-Netter syndrome (WNS), a rare condition, is characterized by an anterior curvature of the bones of the lower limbs, usually bilateral and symmetrical. It was first described in 1954 by Weismann-Netter and Stuhl. We report a 2-year-old girl with typical findings of WNS who was misdiagnosed as having rickets. Our purpose is to draw attention to the WNS in the differential diagnosis of skeletal dysplasias. We think that the true incidence of WNS is probably higher than previously reported; therefore, we would like to emphasize that WNS should be considered in patients who have bowed lower extremities and have been diagnosed as having syphilis or healed rickets.

Body Height↗
PubMed2004

A review of 35 cases of asymmetric crying facies.

A review of 35 cases of asymmetric crying facies: Congenital asymmetric crying facies (ACF) is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle (DAOM) on one side of the mouth. It is well known that this anomaly is frequently associated with cardiovascular, head and neck, musculoskeletal, respiratory, gastrointestinal, central nervous system, and genitourinary anomalies. In this article we report 35 ACF patients (28 children and 7 adults) and found additional abnormalities in 16 of them (i.e. 45%). The abnormalities were cerebral and cerebellar atrophy, mega-cisterna magna, mental motor retardation, convulsions, corpus callosum dysgenesis, cranial bone defect, dermoid cyst, spina bifida occulta, hypertelorism, micrognatia, retrognatia, hemangioma on the lower lip, short frenulum, cleft palate, low-set ears, preauricular tag, mild facial hypoplasia, sternal cleft, congenital heart defect, renal hypoplasia, vesicoureteral reflux, hypertrophic osteoarthropathy, congenital joint contractures, congenital hip dislocation, polydactyly, and umbilical and inguinal hernia. Besides these, one infant was born to a diabetic mother, and had atrial septal defect and the four other children had 4p deletion, Klinefelter syndrome, isolated CD4 deficiency and Treacher-Collins like facial appearance, respectively Although many of these abnormalities were reported in association with ACF, cerebellar atrophy, sternal cleft, cranial bone defect, infant of diabetic mother, 4p deletion, Klinefelter syndrome, isolated CD4 deficiency and Treacher-Collins like facial appearance were not previously published.

Abnormalities, Multiple↗
PubMed2004

Severe peripheral polyneuropathy in a child with infective endocarditis caused by Staphylococcus aureus.

Although central nervous system complications such as stroke, encephalopathy and meningitis are commonly described in Staphylococcus aureus endocarditis, peripheral nervous system involvement is rarely reported in the literature. In this article we report on a 13-year-old boy with infective endocarditis caused by Staphylococcus aureus in whom severe polyneuropathy developed during hospitalization. To the best of our knowledge this is the first child case with infective endocarditis associated with peripheral polyneuropathy in the literature.

Adolescent↗
PubMed2004

Toxic hepatitis in a case of Angelman syndrome associated with Lennox-Gastaut syndrome.

We report a 26-month-old boy with Angelman syndrome associated with Lennox-Gastaut syndrome, who developed a rash and a persistent toxic hepatitis after lamotrigine was added to valproate therapy. The patient had typical findings of both Angelman and Lennox-Gastaut syndromes. Chromosome analysis performing by FISH analysis showed a deletion in chromosome 15 (q11.2 q11.2). Although some cases of Angelman syndrome associated with Lennox-Gastaut syndrome were reported in the literature, valproate and/or lamotrigine induced toxic hepatitis in Angelman syndrome has hitherto never been described. We conclude that VPA and LTG combination should be given with great caution or avoided in patients with Angelman syndrome.

Angelman Syndrome↗
PubMed2004

Report of a girl with Klippel-feil syndrome and Poland anomaly.

Report of a girl with Klippel-feil syndrome and Poland anomaly: Klippel-Feil syndrome, consisting of the triad of a short neck, low posterior hairline, and limitation of neck movement, is a congenital anomaly characterized by the fusion of cervical vertebrae, Poland anomaly consists of unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. We report a 7-year-old girl with typical findings of Klippel-Feil syndrome and Poland anomaly. To the best of our knowledge a case of Klippel-Feil syndrome and Poland anomaly has not been described before, although a combination of Poland, Klippel-Feil and Moebius anomalies has been reported in the literature.

Bone and Bones↗
PubMed2003

The relationship between scoring systems and cytokine levels in neonatal sepsis.

In this study, 20 newborn infants with sepsis were evaluated and scored according to the criteria of Töllner and Rodwell and associates. Leukocyte count, serum C-reactive protein (CRP), tumour necrosis factor (TNF)-alpha and interluekin (IL)-6 levels were also studied in all infants. The aim of this study was to determine if a relationship exists between the scoring systems and the cytokine levels in neonatal sepsis. The infants were divided into two groups as blood culture positive and negative. Blood culture was positive in 12 (60%) infants. We did not find a significant difference for leukocyte count, cytokine levels and scoring systems between the blood culture positive and negative groups. However, we found a positive correlation between the scoring systems and serum CRP and TNF-alpha levels (P < 0.05), but no correlation with IL-6. In conclusion, we suggest that only serum CRP level without performing scoring and studying serum TNF-alpha concentration may be used in early diagnosis of neonatal sepsis. However, further studies are necessary to define this because of the small sample size of our pilot study.

Biomarkers↗
PubMed2003

Do we consider Andermann syndrome in infants with agenesis of corpus callosum.

Andermann syndrome is characterized by agenesis of corpus callosum, anterior horn cell disease, a mixed sensory and motor neuropathy, and facial dysmorphism, and is inherited as an autosomal recessive trait. A 7-month-old boy was admitted with developmental retardation. Head control was not gained and he could not sit. He had high arched palate, elongated facies and large angle of the mandible, which were compatible with the Andermann syndrome. Moderate hypotonicity and absent tendon reflexes were also noted. Serum creatine kinase level was normal. Magnetic resonance imaging of the brain showed agenesis of the corpus callosum. Electromyographic examination revealed the presence of both sensory and motor neuropathy. The patient was diagnosed as having the Andermann syndrome according to the clinical and laboratory findings and he is reported due to rare presentation.

Agenesis of Corpus Callosum↗
PubMed2003

A fatal case of cerebellar hypoplasia associated with anterior horn cell disease.

A 27-month-old girl was admitted with inability to walk and speak. The pregnancy, labor and delivery were unremarkable. She was the second child of first degree consanguineous parents and the other 5-year-old child was healthy. On physical examination, she could sit without aid. Horizontal nystagmus and bilateral optic atrophy were diagnosed. Moderate hypotonicity and muscle atrophy were noted in the lower extremities, and deep tendon reflexes were found to be brisk. Serum creatine kinase level was normal. Brainstem auditory evoked potential was also bilateral normal. Flash visual evoked potential was found to be prolonged bilaterally. Magnetic resonance imaging of the brain showed severe cerebellar hypoplasia and mild cerebral atrophy. Electromyographic examination was consistent with anterior horn cell disease. Muscle biopsy specimen was unremarkable. Genetic analysis was unremarkable. The patient was diagnosed with cerebellar hypoplasia associated with anterior horn cell disease, which was named as amyotrophic cerebellar hypoplasia, Norman's disease or infantile neuronal degeneration in the literature. During the follow-up, the parents said that she died at the age of 34 months, because of probable infection.

Cerebellum↗
PubMed2003

Food-borne botulism cases in Van region in eastern Turkey: importance of electromyography in the diagnosis.

OBJECTIVES: Food-borne botulism is an acute form of poisoning that results from ingestion of a toxin produced by Clostridium botulinum. Botulism toxin causes its major effect by blocking neuromuscular transmission in autonomic and motor nerve terminals. METHODS: In this study, we present the features of eleven cases of food-borne botulism admitted to our hospital in 2001. All of the cases were caused by home-prepared foods; green beans. In these cases, the main symptoms and signs were generalized muscular weakness, dry mouth, dysphagia, disponea and diplopia. Electrophysiological studies were performed on four patients. RESULTS: Motor conduction studies showed that compound muscle action potentials were decreased with normal latencies and conduction velocities. The needle electromyography showed signs of denervation potentials like fibrillation and positive waves in four patients. Repetitive nerve stimulation with high frequency (20 Hz) induced an increment close to 100% in the amplitudes in 2 of 4 patients. CONCLUSION: Although toxin could not be detected in the patients, the electromyographic findings supported our diagnosis. We concluded that electromyography has an important role in diagnosis of botulism, especially in the condition that serologic tests are negative or cannot be performed.

Action Potentials↗