Septo-optic dysplasia, as first described by de Morsier, is a rare developmental anomaly of absent or hypoplastic septum pellucidum, a primitive optic vesicle, and dysplasia of the optic nerve, chiasm, and optic tracts. It is a common cause of hypopituitarism in children and has variable hypothalamic-pituitary dysfunction. We experienced a case of septo-optic dysplasia in 5 month old female baby who presented with developmental delay and seizure. A magnetic resonance imaging of the brain showed absence of the septum pellucidum and the fundoscopic examination disclosed the absence of left optic disc and atrophy of right optic disc.
Atrophy ; Brain ; Child ; Female ; Humans ; Hypopituitarism ; Infant ; Magnetic Resonance Imaging ; Optic Nerve ; Seizures ; Septo-Optic Dysplasia* ; Septum Pellucidum ; Visual Pathways

The diagnosis of a Battered Child Syndrome is made by the pediatrician, surgeon and the radiologist because almost parents deny the diagnosis or refuse to answer the doctor's questions. The imaging modalities play a key role in the investigation and documentation of the battered child syndrome, because of the high frequency of the typical skeletal lesion. Although physical abuse is denied by parents, the recognition of this entity is possible by the primary diagnostic imaging study in the suspected child abuse. The imaging studies are either a bone scan and x-ray series or a complete radiolographic skeletal survey by X-ray series. In an expected intracranial injury, a CT scan of the head is mandatory We experienced a case of Battered Child Syndrome in a 6 month-old male infant who had subdural hemorrhage and fractures of skull and ribs in different stages of healing and repair. The brief review of the literature was made.
Battered Child Syndrome* ; Child ; Child Abuse ; Diagnosis ; Diagnostic Imaging ; Head ; Hematoma, Subdural* ; Humans ; Infant ; Male ; Parents ; Ribs ; Skull ; Tomography, X-Ray Computed

We have experienced a case of 13 ring chromosome in a 40-month-old girl who demonstrated psychomotor retardation with delayed speech, growth retardation, hearing loss(left), microcephaly, trigonocephaly with flat occiput, hypertelorism, epicanthal folds, microophthalmia, broad prominamt nasal bridge, high arched palate, micrognathia, large auricles and other anomalies. Cytogenetic studies of peripheral blood lymphocytes with differential staining of chromosomes revealed 46, XX, r13. Her parents' karyotypes were normal. We reported the case with the review of the associated literatures.
Child, Preschool ; Craniosynostoses ; Cytogenetics ; Female ; Hearing ; Humans ; Hypertelorism ; Karyotype ; Lymphocytes ; Microcephaly ; Palate ; Ring Chromosomes*

Acute disseminated encephalomyelitis(ADEM) and acute relapsing disseminated encephalomyelitis(ARDEM) are representative demyelination diseases that occur among young children with a fulminant onset similar to encephalitis or meningitis. The diseases often occur after some viral infection of immunization and the etiology of these diseases is considered to be an autoimmune response because of the similarity in pathologic findings to experimental allergic encephalomyelitis. Cerebral computed tomography(CT) findings of demyelination in ADEM or ARDEM show normal to low density areas in the white matter. In cerebral MRI findings, a scattered distinct high intensity lesion considered to be demyelination is observed in 72-weighted imaging even in the early stages. ADEM is usually monophasic, but recurrent episodes may occure. When ADEM is reccurent, the distinction from multiple sclerosis becomes difficult. We report here a case of acute relapsing disseminated encephalomyelitis(ARDEM) in a 9 years old male child who experence ADEM, 3 times.
Autoimmunity ; Child ; Demyelinating Diseases ; Encephalitis ; Encephalomyelitis, Acute Disseminated* ; Encephalomyelitis, Autoimmune, Experimental ; Humans ; Immunization ; Magnetic Resonance Imaging ; Male ; Meningitis ; Multiple Sclerosis

Hypertensive encephalopathy is characterized by an acute, severe rise in blood pressure associated with headache, nausea, vomiting, altered mental status, and focal neurologic deficits, and rapid improvement after control of blood pressure. An eight-year old boy had been admitted with symptoms of red urine, fever, headache, convulsion, and visual blurring of vision. Blood pressure was 140/90mmHg, and CSF exam revealed WBC 8/mm3, glucose 83mg/dL, protein 106mg/dL. Serum C3 was 8mg/dL, C4 17mg/dL, ASO 1,024 Todd units. Brain CT showed non specific findings, however, MRI revealed symmetric high signal intensity lesions on T2WI over the parieto-occipital areas bilaterally. These lesions had been completely resolved on the following MRI 4 weeks later.
Blood Pressure ; Brain* ; Fever ; Glomerulonephritis* ; Glucose ; Headache ; Humans ; Hypertensive Encephalopathy* ; Magnetic Resonance Imaging* ; Male ; Nausea ; Neurologic Manifestations ; Seizures ; Vomiting

We experienced an unusual case of acute encephalopathy in a 4 month-old boy He was admitted to our hospital because of lethargy and seizures after preceding symptoms of upper respiratory tract infection a few days before admission. On admission, he was in semicomatous mental state with decorticated rigidity. Laboratory tests showed normal blood sugar, ammonia, and transaminase levels. CSF was acellular and sterile. Brain MRI in both 71 and 72 weighted-image showed high signal density in both thalami and caudate nucleus head. After recovery, neurologic sequales of developmental delay, mental retardation, right hemiplegia and seizure remained. We report a case of acute encephalopathy that have clinical course similar to Reye syndrome but have specific brain image.
Ammonia ; Blood Glucose ; Brain ; Caudate Nucleus ; Head ; Hemiplegia ; Humans ; Infant ; Intellectual Disability ; Lethargy ; Magnetic Resonance Imaging ; Male ; Respiratory Tract Infections ; Reye Syndrome ; Seizures

Developmental venous anomalies are congenital anomalies of the intracranial venous drainage and clinically asymptomatic. Cavernous hemangiomas are vascular malformations composed of dilated vascular channels lined with a single layer of endothelial cells without any intervening normal neural tissue. Although, cavernous hemangioma may be clinically silent, but frequently cause variable neurologic manifestations; intracranial hemorrhage, seizures, and focal neurologic deficits. Frequent association of these two diseases has already been reported and it has been suggested that cavernous hemangiomas not the developmental venous anomalies that cause the acute clinical symptoms. A 4 year old girl with sudden onset of headache, vomiting, gait disturbance and signs of unilateral cerebellar dysfunction 2 days before admission showed a 2.5x2.5cm sized hematoma with heterogenous signal intensity both in CT and MRI in the left cerebellar hemisphere. Four-vessel cerebral angiography revealed characteristic findings of developmental venous anomalies. Pathologic findings of the surgically removed hematoma disclosed typical feature of cavernous hemangioma. Based on the findings in this case and review of the literatures, we concluded that the possibility of other diseases such as cavernous hemangiomas must be considered in patients who has intracranial hemorrhage due to the developmental venous anomalies.
Cerebellar Diseases ; Cerebral Angiography ; Child, Preschool ; Drainage ; Endothelial Cells ; Female ; Gait ; Headache ; Hemangioma, Cavernous* ; Hematoma ; Hemorrhage* ; Humans ; Intracranial Hemorrhages ; Magnetic Resonance Imaging ; Neurologic Manifestations ; Seizures ; Vascular Malformations ; Vomiting

Congenital myotonic dystrophy is an inherited, autosomal dominant disease that results in a progressive wasting of the skeletal muscle, and sometimes heart and smooth muscles in human. In the newborn period, an affected infant is profoundly weak, has difficulty in sucking and swallowing, and may have severe respiratory difficulties. Myotonia is not a feature of the condition at this stage. Motor development is usually delayed in these children, and they may show some signs of mental retardation. Generally, the condition improves through the early years but deteriorates during late childhood and adolescence, when the 'adult' features of the disease gradually emerge. The gene defect responsible for myotonic dystrophy has proved to be a region of unstable fragment of DNA on chromosome 19. An expansion of a CTG(cytosinethymine-guanine) repeat in the 3'-untranslated region of a protein kinase gene contributes to the development of myotonic dystrophy. We have diagnosed and experienced a case of congenital myotonic dystrophy in a neonate with the chief complaint of respiratory difficulty and apnea. So we report the case and the brief review of related literatures.
Adolescent ; Apnea ; Child ; Chromosomes, Human, Pair 19 ; Deglutition ; DNA ; Heart ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability ; Molecular Biology* ; Muscle, Skeletal ; Muscle, Smooth ; Myotonia ; Myotonic Dystrophy* ; Protein Kinases

Since Yunis and Sanchez described in 1974, distal 10q partial trisomy has been recognised as a chromosomal anomaly, which has typical features, psychomotor delays, distinctive dysmorphic appearance and growth retardation. Also, it is associated with cardiac, renal and ocular anomalies. Most of them result from an unbalanced tanslocation or a deletion but, pure duplications are very rare. We report a 19-month-old boy with typical clinical features of distal 10q partial trisomy with a pure duplicatin of 10q.
Humans ; Infant ; Male ; Trisomy*

The septo-optic dysplasia, or de Morsier syndrome is a developmental anomaly characterized by involvement of the septum pellucidum, optic system and hypothalamic-pituitary axis. We had experienced a case of septo-optic dysplasia in 8 month-old female. A magnetic resonance imaging of the brain showed isolated absent septum pellucidum. And ophthalmoscopic examination showed right optic nerve hypoplasia, exotropia of right eye.
Axis, Cervical Vertebra ; Brain ; Exotropia ; Female ; Humans ; Infant ; Magnetic Resonance Imaging ; Optic Nerve ; Septo-Optic Dysplasia* ; Septum Pellucidum