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

PURPOSE: This study aimed to investigate the clinical features of macrocephaly at birth in Korea using ultrasonography. METHODS: We retrospectively investigated the medical records of full-term birth neonates in Cheil General Hospital & Women's Healthcare Center from January 2000 to June 2012. The following parameters were recorded and analyzed: gestational age, sex, birth weight, height, occipitofrontal circumference (OFC), physical examination, perinatal problems, and ultrasonography results. Macrocephaly was diagnosed when the OFC was greater than two standard deviations, based on the 2007 Korean National Growth Charts. RESULTS: There were 75 neonates with macrocephaly at birth (52 boys and 23 girls), with a mean OFC of 38.1+/-0.49 cm. A comparison of the birth weight and height with the OFC value showed that height was correlated with OFC (r=0.35) but birth weight was not correlated with OFC (r=0.06). There were no remarkable findings in 56 cases (75%). Germinal matrix hemorrhage was identified in 10 cases (13%). An enlarged cerebrospinal fluid space was found in 5 cases (6.7%). There were 3 cases of mega-cisterna magna (4%), 1 case of ventriculomegaly, and 1 case of an enlarged interhemispheric space (6 mm) among these patients. In addition, a choroid plexus cyst was seen in 1 case. Mineralizing vasculopathy in both basal ganglia with no evidence of congenital infection was found in 2 cases and an asymptomatic subarachnoid hemorrhage was found in 1 case. CONCLUSION: Our results indicate that macrocephaly at birth has benign ultrasonography findings and shows a pattern of male dominance.
Basal Ganglia ; Birth Weight ; Cerebrospinal Fluid ; Choroid Plexus ; Delivery of Health Care ; Gestational Age ; Growth Charts ; Hemorrhage ; Hospitals, General ; Humans ; Infant, Newborn ; Korea* ; Macrocephaly* ; Male ; Medical Records ; Parturition* ; Physical Examination ; Retrospective Studies ; Subarachnoid Hemorrhage ; Ultrasonography

macrocephaly, kyphoscoliosis, cleft palate, frontal and temporal bossing, mild ocular hypertelorism, mild mandibular prognathism, vertebral fusion, and so on. A 16-year-old boy visited the Dong-A University Medical Center, requiring diagnosis and treatment of multiple cystic lesions. He presented with many conditions related to NBCCS, including multiple KOTs, bifid rib, cleft lip, frontal bossing, mild ocular hypertelorism, and mild mandibular prognathism. No characteristic cutaneous manifestations (nevoid basal cell carcinoma) were observed in this patient. We report on a case of multiple KOTs associated with NBCCS with a review of the literature.]]>
Academic Medical Centers ; Adolescent ; Basal Cell Nevus Syndrome ; Carcinoma, Basal Cell ; Cleft Lip ; Cleft Palate ; Diagnosis ; Humans ; Hypertelorism ; Jaw ; Macrocephaly ; Male ; Odontogenic Cysts ; Odontogenic Tumors ; Prognathism ; Ribs

Mucopolysaccharidoses (MPSs) are a group of inherited heterogenous metabolic disorders, caused by deficiency of an enzyme involved in the degradation of mucopolysaccharides, and thus deposition of mucopolysaccharides in all connective tissue. MPS type III is heparan sulphate storage disorder, especially marked central nervous system involvement. As with all the MPS disorders, this patient with MPS III presents coarse outlook features, such as macrocephaly, macroglossia, prominent mandible, short neck, and unstable atlantoaxial joints, as well as tracheal abnormality. These clinical findings give significant challenges to the anesthesiologist for adequate airway management and tracheal intubation. Recently, a number of new devices have been developed to facilitate intubation. We report an experience of facilitated tracheal intubation using video styletscope (OptiScope PM201(R), Pacific Medical, Seoul, Korea) in a 16 year old male patient with MPS III, who was undergoing inguinal hernia repair.
Airway Management ; Atlanto-Axial Joint ; Central Nervous System ; Connective Tissue ; Glycosaminoglycans ; Hernia, Inguinal ; Humans ; Intubation ; Intubation, Intratracheal ; Macrocephaly ; Macroglossia ; Male ; Mandible ; Mucopolysaccharidoses ; Neck

Cowden's disease, also known as a kind of phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome, is an uncommon autosomal dominant inherited complex disorder with various hamartomatous growths of multiple organs involving all three germ cell layers. It usually manifests with polyps throughout the gastrointestinal tract, ranging anywhere from 30% to 85%, and more common extra intestinal findings. Mucocutaneous lesions like facial trichilemmomas, acral keratoses, papillomatous papules and macrocephaly, and malignancies including breast, thyroid and endometrial carcinoma are the hallmark of the disease. Here we report on familial Cowden's diseases case of a 52-year-old male proband with mucocutaneous lesions and mutation on the PTEN gene obtained by extrapolating from gastrointestinal polyposis as a starter and his daughter who developed thyroid cancer.
Breast ; Endometrial Neoplasms ; Female ; Gastrointestinal Tract ; Germ Cells ; Hamartoma ; Hamartoma Syndrome, Multiple ; Humans ; Intestinal Polyposis ; Keratosis ; Macrocephaly ; Male ; Microfilament Proteins ; Nuclear Family ; Papilloma ; Polyps ; Thyroid Gland ; Thyroid Neoplasms

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

Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular disorder, and its pathophysiology is still unclear and most cases occur sporadically. Cutaneous lesions are observed at birth with a marbled bluish and deep-purple appearance. The associated anomaly is manifest as body asymmetry, macrocephaly, hydrocephalus, mental retardation, syndactyly and congenital glaucoma. We report our experience of CMTC1 in a female infant with the gestational age of 34 weeks and 6 days and birth weight of 2,300 g who was born by cesarean section with abnormal skin lesions. The cutaneous lesions covered most of the lower body and they faded as she continues to grow. She also had onychodysplasia in her left 2nd phalanges. In this case, close follow up by not only pediatricians but also ophthalmologist and neurologists to treat various forms of lesions involved, though the prognosis of CMTC is generally good.
Birth Weight ; Cesarean Section ; Female ; Follow-Up Studies ; Gestational Age ; Glaucoma ; Humans ; Hydrocephalus ; Infant ; Intellectual Disability ; Macrocephaly ; Parturition ; Pregnancy ; Prognosis ; Skin ; Skin Diseases, Vascular ; Syndactyly ; Telangiectasis ; Vascular Malformations

macrocephaly, cranial hyperostosis, and long bone overgrowth. We diagnosed Proteus syndrome in a male patient who visited our hospital with a chief complaint of limited mouth opening and report the case because we obtained a good healing outcome after treating the condition with a corrective osteotomy.]]>
Congenital Abnormalities ; Extremities ; Gigantism ; Hemangioma ; Humans ; Hyperostosis ; Hyperplasia ; Lipoma ; Lymphangioma ; Macrocephaly ; Male ; Mouth ; Nevus ; Osteotomy ; Proteus ; Proteus Syndrome

Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. These malformations result from the mutation in fibroblast growth factor receptor 3 (FGFR-3) gene which is located on the short arm of chromosome 4. A definite diagnosis should be established by molecular genetic analysis to find out the abnormal mutations in the FGFR3 gene. We confirmed by detection of a R248C mutation in the FGFR3 gene in DNA analysis.
Arm ; Chromosomes, Human, Pair 4 ; DNA ; Dwarfism ; Extremities ; Femur ; Forehead ; Head ; Macrocephaly ; Molecular Biology ; Receptor, Fibroblast Growth Factor, Type 3 ; Thanatophoric Dysplasia ; Thorax

The authors present a case of subdural empyema in a macrocephalic patient. A 23-year-old male was admitted due to headache and fever. One month ago, he had mild head injury by his coworkers. Physical examination showed a macrocephaly and laboratory findings suggested purulent meningitis. Neuroimaging studies revealed a huge size of epidural space-occupying lesion. Under the impression of epidural abscess, operation was performed. Eventually, the lesion was located at subdural space and was proven to be subdural empyema. Later, histological examination of the specimen obtained by surgery demonstrated finings consistent with the capsule of the chronic subdural hematoma. Two weeks after operation, Propionibacterium acnes was isolated. The intravenous antibiotics were used for total of eight weeks under monitoring of the serum level of the C-reactive protein. Follow-up brain computed tomography (CT) scan showed the presence of significant amount of remaining subdural lesion. However, he has complained of minimal discomfort. It is suggested that the subdural empyema occurred with preexisting chronic subdural hematoma after head injury about one month prior to admission and it took a long time to treat Propionibacterium acnes subdural empyema with systemic antibiotics, at least over eight weeks.
Anti-Bacterial Agents ; Brain ; C-Reactive Protein ; Craniocerebral Trauma ; Empyema, Subdural ; Epidural Abscess ; Fever ; Follow-Up Studies ; Headache ; Hematoma, Subdural, Chronic ; Humans ; Macrocephaly ; Male ; Meningitis ; Neuroimaging ; Physical Examination ; Propionibacterium ; Propionibacterium acnes ; Subdural Space ; Young Adult