Silver-Russell Syndrome (SRS) is a rare disorder associated with prenatal and postnatal growth retardation with associated characteristic facial and ocular features including strabismus. We report the outcome of strabismus surgery performed for exotropia in a 4-year-old patient with SRS. The patient presented with decreased visual acuity and constant exotropia of the right eye noted since 3 months of age. Systemic SRS characteristics consisted of relative macrocephaly, short stature, forehead prominence and stunted growth pattern. An X-pattern exotropia is consistent with bilateral tight lateral recti muscles with overelevation in adduction of the left eye was present. Patient underwent unilateral right lateral rectus recession and right medial rectus resection for a 50-prism diopter constant exotropia. Patient had a favorable outcome of within 8 prism diopters from orthotropia at 1st, 3rd-, 6th- and 12th-month post-operatively.
Russell Syndrome ; exotropia ; macrocephaly

Hypomelanosis of Ito (HI) is a rare neurocutaneous syndrome with characteristic whirled hypopigmented skin lesions and neurological manifestations. Less consistently, there may be non-neurological manifestations that include ophthalmic, musculoskeletal, craniofacial, cardiac, genitourinary, and gastrointestinal involvements. We report a case of HI, with typical skin lesions in association with hemimegalencephaly, seizures and mental retardation along with the hitherto unreported repetitive hand movements such as seen in Rett syndrome.
Hemimegalencephaly ; Ito syndrome ; Pigmentation disorders

Weaver syndrome is a very rare overgrowth syndrome with accelerated skeletal maturation, unusual facies and clinodactyly. We experienced an extremely rare case of Weaver syndrome in Korea. The clinical manifestations were macrocephaly, unusal facies, simian crease, clinodactyly, decreased muscle tone, accelerated bone age and congenital heart diseases. We report this with a brief review of related literature.
Facies ; Heart Diseases ; Korea ; Macrocephaly ; Muscle Hypotonia

OBJECTIVE: There is a broad spectrum of compensated hydrocephalus. Various terms such as long-standing overt ventriculomegaly in adult (LOVA) has been coined, however, even such terms leave diverse aspect of this condition out of account. We have experienced compensated hydrocephalus cases which were considered to be activated after a long time period of quiescent state, and tried to compare their clinical characteristics with the relatively well described entity of LOVA. METHODS: We conducted a retrospective review of 206 patients who underwent ventriculoperitoneal shunt (VPS) between February 2001 and May 2012. Of these, 6 patients had chronic compensated hydrocephalus. The clinical and radiological characteristics are evaluated. RESULTS: Definite triventriculomegaly was observed in two patients. Macrocephaly was observed in two cases, one with aqueductal stenosis (AS), the other with unknown status of aqueduct. All of the cases with triventriculomegaly were normocephalic. Spinal causes were thought as aggravating factor in two. Two endoscopic third ventriculostomy and eight VPS were performed in five patients. Four patients responded well but one took a very complicated course. CONCLUSION: The relationships between macrocephaly, triventriculomegaly, and AS suggested in other studies were inconsistent. Blockage or narrowing of cerebrospinal fluid pathways were observed at various sites. Disturbances of spinal arachnoid pathways were related to the activation in some cases. Treatment is to be tailored individually considering various reigniting event. It is suggested that this entity is to be evaluated for better nomenclature reflecting diverse aspects of this condition. Further study is needed to elucidate underlying pathophysiology and effective management.
Adult ; Arachnoid ; Humans ; Hydrocephalus ; Macrocephaly ; Numismatics ; Retrospective Studies ; Ventriculoperitoneal Shunt ; Ventriculostomy

Glutaric aciduria(type 1) is characterized clinically by progressive dystonia and dyskinesia in childhood, pathologically by degeneration of caudate and putamen, biochemically by tissue deficiency of glutaryl-CoA dehydrogenase(GCDH), and is transmitted as an autosomal recessive traits. Mutations of the GCDH gene on chromosome 19 have been implicated in the causation of glutaric aciduria(type 1). Macrocephaly in infancy and crossing of percentiles for head circumference are real clues to early diagnosis. Acute neuroregression of dystonia following an initial phase of normal or almost normal development is a common mode of presentation, at times preceded by seizures. We experienced a case of glutaric aciduria(type 1) in a 13-month old girl. She was admitted due to development delay and choreoasthetoid movememt that developed after generalized tonic-clonic type seizures. She was diagnosed as having glutaric aciduria(type 1) based on brain MRI and urine organic acid analysis finding.
Brain ; Chromosomes, Human, Pair 19 ; Dyskinesias ; Dystonia ; Early Diagnosis ; Female ; Head ; Humans ; Infant ; Macrocephaly ; Magnetic Resonance Imaging ; Putamen ; Seizures

Hemimegalencephaly is a rare congenital malformation of the cortical development arising from abnormal proliferation of anomalous neuronal and glial cells. The characteristic clinical manifestations are macrocephaly, psycomotor retardation, intractable seizure and hemihypertrophy of face, body and extremities, but musculoskeletal deformities are reported only in case of epidermal nevus syndrome. We report a case of hemimegalencephaly that was associated with foot deformity, without symptoms and signs of epidermal nevus syndrome.
Congenital Abnormalities ; Extremities ; Foot Deformities ; Foot Deformities, Congenital ; Macrocephaly ; Malformations of Cortical Development ; Neuroglia ; Neurons ; Nevus ; Nevus, Sebaceous of Jadassohn ; Seizures

Choroid plexus carcinoma is a rare malignant brain tumor that occurs predominantly in childhood. A 203-day-old infant was admitted to our hospital with macrocephaly and right hemiparesis. The skull protruded diffusely in the left parietal area. Brain magnetic resonance imaging) revealed a huge mass in the left ventricle. We performed an open biopsy and discovered a choroid plexus carcinoma. The tumor bled very easily and hemostasis was difficult. After three cycles of chemotherapy, we resected the entire mass in a staged operation. Chemotherapy enabled us to resect the entire tumor by reducing its size. We report this case to stress the benefits of preoperative chemo-therapy and review the relevant literature.
Biopsy ; Brain ; Brain Neoplasms ; Choroid Plexus* ; Choroid* ; Drug Therapy ; Heart Ventricles ; Hemostasis ; Humans ; Infant* ; Macrocephaly ; Paresis ; Rabeprazole ; Skull

Costello syndrome (CS) is a rare multiple congenital abnormality syndrome characterized by a typical coarse face, developmental delay, psychomotor and growth retardation, neurologic abnormalities, cardiac and cutaneous anomalies, severe feeding difficulties with postnatal growth failure, and increased risk of tumors. Since Costello first described it in 1971 and again in 1977, over 100 cases have been reported worldwide. It was recently shown that CS is a congenital condition caused by heterozygous de novo missense mutations affecting the codon for glycine 12 or 13 of the HRAS gene. We experienced three unrelated cases with coarse faces, developmental delays, short statures, macrocephaly, and redundant skin with deep palmar and plantar creases, hypertrophic cardiomyopathy and atrial tachycardia, which are characteristic of CS.
Cardiomyopathy, Hypertrophic ; Codon ; Congenital Abnormalities ; Costello Syndrome* ; Developmental Disabilities ; Glycine ; Macrocephaly ; Maxillofacial Abnormalities ; Mutation, Missense ; Skin ; Tachycardia

Canavan disease, also known as van Bogaert-Bertrand disease, is a rare autosomal recessive disorder characterized by early an onset and a progressive spongyform degeneration of the brain, associated with an edema of the central nerve system, intramyelinic swelling and neurologic symptoms. This disorder is most prevalent in people of Ashkenazi Jewish descent but has been observed in other ethnic groups. Patients have severe mental retardation, poor head control, macrocephaly and seizures. Canavan disease is caused by the accumulation of N-acetylaspartic acid(NAA) in the brain as the result of a deficiency of aspartoacylase(ASPA) activity. Most children are reported to have the infantile form, becoming symptomatic between three and six month of age, after unremarkable prenatal and perinatal course. We experienced a case of Canavan disease in a six day old female newborn baby, associated with seizure, degeneration of brain white matter and markedly elevated urine N-acetylaspartic acid(NAA) level. So, we report the case with a brief review of the related literature.
Brain ; Canavan Disease* ; Child ; Edema ; Ethnic Groups ; Female ; Head ; Humans ; Infant, Newborn ; Intellectual Disability ; Macrocephaly ; Neurologic Manifestations ; Seizures

Congenital intracranial teratoma is a very rare tumor. We recently experienced a case of massive congenital intracranial teratoma that discovered in a male infant of 28 weeks of gestation. A 33-year old multigravida was observed at 28 weeks gestation for prenatal ultrasound examination and ultrasonography revealed the fetus was severely macrocephalic with marked hydrocephalus. For therapeutic termination, Hysterotomy and fetal cephalocentesis was performed to deliver a stillborn infant. Autopsy revealed a 2,420 g male infant with severe macrocephaly. A multilobulated intracerebral tumor was found a diameter 18 cm involving both cerebral hemisphere. The tumor was considered to have originated in the vicinity of pineal gland and suprasellar region. Microscopic examination showed the characteristic picture of a teratoma. The predominent component is immature neuroepithelium in the form of primitive neural tubules variably mature somatic tissure from other germ cell layers accompany the neuroepithelium. We report a case of congenital intracranial immature teratoma.
Adult ; Autopsy ; Cerebrum ; Fetus ; Germ Cells ; Humans ; Hydrocephalus ; Hysterotomy ; Infant ; Macrocephaly ; Male ; Pineal Gland ; Pregnancy ; Teratoma* ; Ultrasonography