Woo Ho Cho

Dynamic contrast-enhanced MR imaging of VX2 carcinomas after X-irradiation in rabbits: comparison of gadopentetate dimeglumine and a macromolecular contrast agent.

Rationale and Objectives:To compare enhancement patterns of gadomer-17 with those of gadopentetate dimeglumine in VX2 carcinomas after irradiation on rabbits. Methods:Twelve rabbits with VX2 carcinoma in the thigh underwent dynamic contrast-enhanced magnetic resonance (MR) imaging with gadopentetate dimeglumine and gadomer-17 at 24-hour intervals before (n = 12), 3 days (group 1, n = 12), 1 month (group 2, n = 8) and 2 months (group 3, n = 4) after 30 Gy irradiation. After taking postirradiation MR images, 4 rabbits were killed for histopathologic examination at each time interval. The enhancement characteristics in MR imaging and morphology of tumor vessels in histopathologic specimen were assessed. Results:After gadopentetate dimeglumine injection, the enhancement characteristics were not different among tumors before and after irradiation (P > 0.05). For gadomer-17, the enhancement ratios decreased after irradiation. The shape of the curves for tumor enhancement before irradiation was significantly different from curves of group 1(P < 0.05). The specimens from group 3 showed sclerosis and wall thickening in arterioles. Conclusions:Dynamic contrast-enhanced MR imaging with a gadomer-17 reveals increased capillary permeability at an early phase after irradiation and chronic obliterating vasculopathy at delayed phase.

Clinical and electroencephalographic features of infantile spasms associated with malformations of cortical development.

The aim of this study was to reveal the clinical and encephalographic (EEG) features of infantile spasms (IS) with malformations of cortical development (MCDs). The clinical features, EEG findings, neuroimaging studies and outcomes of various therapeutic modalities for 27 patients with IS and MCDs were reviewed. Background activities of EEG on the MCDs, i.e. asymmetric hypsarrhythmia, localized persistent polymorphic slowing, asymmetric slowing and diffuse fast activities, were shown in 22, 15, 9 and 2 patients, respectively. Partial epileptiform discharges such as localized paroxysmal fast activities, spindle-shaped fast activities and subclinical seizures were shown in 15, 8 and 10 patients, respectively, and the lateralized prominence of generalized paroxysmal fast activities and generalized sharp and wave discharges in 4 and 5 patients, respectively. MCDs were suspected in 5 patients, as revealed by EEG and/or functional neuroimagings without distinct magnetic resonance imaging lesions, and confirmed by pathologic findings. Of the 11 patients treated with surgical resection, 8 became seizure free. EEG features can be very useful in the identification of underlying cortical dysgenesis in patients with IS. However, in one patient who underwent epilepsy surgery in early infancy, we observed easy bleeding and difficult hemostasis from friable vascular and parenchymal tissues. Various EEG features can be very useful in screening underlying MCDs. In addition, epilepsy surgery can be an effective therapeutic modality in many patients with otherwise medically intractable IS with MCDs. However, surgical intervention in extremely young infants should be performed with caution.

Bilateral accessory inferior turbinates and secondary middle turbinates

Bifid inferior nasal turbinates—two inferior turbinates with a single root observed in the nasal cavity—are an extremely rare anatomical variation, especially when they are observed bilaterally and exist with other variations. We report a case of bilateral bifid inferior nasal turbinates with bilateral secondary middle turbinates. We discuss the findings of this rare condition and suggest an appropriate term—accessory inferior turbinate—to replace bilateral inferior turbinate by reason of its embryology.

Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sjögren–Larsson Syndrome

Je Yeon Kim, M.D., Shin-Hye Kim, M.D., Mi-Jung Park, M.D., Soung Hee Kim, M.D., Woo Ho Cho, M.D., Jin Choi, M.D., Chang-Seok Ki, M.D., and Su Jeong You, M.D. Department of Pediatrics, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul; Department of Radiology, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul; Department of Ophthalmology, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

A 6-Month-Old Girl with Incontinentia Pigmenti Presenting as Status Epilepticus

Incontinentia pigmenti (IP) is an uncommon neurocutaneous syndrome. Its initial diagnosis is based primarily on characteristic papulovesicular skin lesions and early-onset neonatal seizures. In contrast to typical early neurologic manifestations, we encountered a normally developed 6-month-old female patient with hyperpigmented whorls on her body. Following respiratory syncytial virus infection and fever, the patient exhibited status epilepticus. Brain magnetic resonance imaging studies of the patient were compatible with the findings of acute encephalopathy in IP. Genetic analysis showed an 11.7 kb deletion within the gene encoding inhibitor of kappa-B kinase gamma. The patient was treated with anticonvulsants and subsequently reached expected developmental milestones after discharge. These findings indicate that when a patient presents with status epilepticus, meticulous examination for skin lesions should be performed to determine whether the patient has a neurocutaneous syndrome, such as IP.