Central nervous system involvement in a case of familial hemophagocytic lymphohistiocytosis with perforin mutation.

Familial hemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive lethal condition characterized by fever, cytopenia, hepatosplenomegaly and hemophagocytosis. The presence of central nervous system involvement has a profound impact on the prognosis, treatment, and clinical outcome of the disease. Therefore, the identification of the clinical manifestations of the disease and the characterization of the accompanying neurological symptoms are of prime importance for the rapid diagnosis and subsequent clinical management of the disease. Herein, we report a case of FHL with homozygosity for perforin gene mutation, who presented with central nervous system involvement in the absence of systemic findings.

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.

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.

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.

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.

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.

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.

Encephalocraniocutaneous lipomatosis associated with iris coloboma, chorioretinitis and spinal cord involvement: a case report.

A 9-year-old boy with a history of lipoma excision and laminectomy at the Th10-11 levels, resulting in incomplete paraparesis and neurogenic bladder, was admitted for a comprehensive rehabilitation programme. Physical examination revealed an ipsilateral focal dermal hypoplastic defect within an area of alopecia and a subcutaneous lipomatous tissue on the left temporo-parietal region of the scalp. Iris coloboma and chorioretinitis were diagnosed on the left eye. He also had mild mental retardation and triparesis. Magnetic resonance imaging of the brain and the spine demonstrated hyperintense masses which were consistent with lipoma. Although in the literature three cases of encephalocraniocutaneous lipomatosis (ECCL) concomitant with spinal cord involvement have been reported, to our knowledge iris coloboma and chorioretinitis in ECCL have not been reported previously. In conclusion, we would like to stress that aside from known ophthalmological malformations, iris coloboma and chorioretinitis may also be observed in ECCL and that all patients who have been diagnosed as having ECCL should be examined for spinal cord involvement.