scholarly journals A Case of a Newborn with Agenesis of the Corpus Callosum Complicated with Ocular Albinism

2016 ◽  
Vol 7 (1) ◽  
pp. 268-273
Author(s):  
Michiko Miki ◽  
Makiko Miyamoto ◽  
Tatsuma Mitsutsuji ◽  
Hiroko Watanabe ◽  
Kazuhiro Shimizu ◽  
...  

Purpose: To report a case of ocular albinism found in a newborn infant in whom agenesis of the corpus callosum (ACC) was indicated in utero. Case Report: This study involved a female newborn who was delivered after a gestational period of 41 weeks. The patient was referred to the Obstetrics Department at Takatsuki Hospital, Takatsuki City, Japan, after the indication of ACC by magnetic resonance imaging (MRI) at a nearby clinic during the fetal period. At birth, the baby’s weight was 2,590 g, and ACC and ventricular enlargement were found by cranial sonography and cranial MRI. While initial ophthalmic findings noted partial loss of pigmentation of the iris and hypopigmentation of broad areas of the fundus in both eyes, nystagmus was not observed. The patient’s hair pigment was slightly diluted, and the color of her skin was slightly off-white. At 2 years after birth, obvious mental retardation was observed. With regard to other systemic findings, no apparent heart, kidney, or immune system abnormalities were found. Conclusion: Although the patient in question is presently growing without any major systemic problems, it will be necessary in the future to pay attention to any changes in systemic and ophthalmic findings.

2021 ◽  
pp. 088307382110162
Author(s):  
Xu Li ◽  
Qing Wang

Objectives: We analyzed the magnetic resonance imaging (MRI) manifestations of fetal corpus callosum abnormalities and discussed their prognosis based on the results of postnatal follow up. Methods: One hundred fifty-five fetuses were diagnosed with corpus callosum abnormalities by MRI at our hospital from 2004 to 2019. Gesell Development Scales were used to evaluate the prognosis of corpus callosum abnormalities after birth. Results: Corpus callosum abnormalities were diagnosed in 149 fetuses from singleton pregnancies, and 6 pairs of twins, 1 in each pair is a corpus callosum abnormality. Twenty-seven cases (27/155) were lost to follow up, whereas 128 cases (128/155) were followed up. Of these, 101 cases were induced for labor, whereas 27 cases were born naturally. Among the 27 cases of corpus callosum abnormality after birth, 22 cases were from singleton pregnancies (22/27). Moreover, 1 twin from each of 5 pairs of twins (5/27) demonstrated corpus callosum abnormalities. The average Gesell Development Scale score was 87.1 in 19 cases of agenesis of the corpus callosum and 74.9 in 3 cases of hypoplasia of the corpus callosum. Among the 5 affected twins, 2 had severe neurodevelopmental delay, 2 had mild neurodevelopmental delay, and 1 was premature and died. Conclusion: The overall prognosis of agenesis of the corpus callosum is good in singleton pregnancies. Hypoplasia of the corpus callosum is often observed with other abnormalities, and the development quotient of hypoplasia of the corpus callosum is lower compared with agenesis of the corpus callosum. Corpus callosum abnormalities may occur in one twin, in whom the risk may be increased.


2018 ◽  
Vol 46 (3) ◽  
pp. 1277-1281 ◽  
Author(s):  
Chaoyang Jing ◽  
Lichao Sun ◽  
Zhuo Wang ◽  
Chaojia Chu ◽  
Weihong Lin

Background Reversible splenial lesion syndrome is a distinct entity radiologically characterized by a reversible lesion in the splenium of the corpus callosum. According to previous reports, this condition may be associated with antiepileptic drug use or withdrawal. We herein report a case of reversible splenial lesion syndrome associated with oxcarbazepine withdrawal. Case Report A 39-year-old man presented with an 8-year history of epileptic seizures. During the previous 3 years, he had taken oxcarbazepine irregularly. One week prior to admission, he withdrew the oxcarbazepine on his own, and the epilepsy became aggravated. Magnetic resonance imaging (MRI) revealed an isolated lesion in the splenium of the corpus callosum with slight hypointensity on T1-weighted imaging and slight hyperintensity on T2-weighted imaging. Regular oxcarbazepine was prescribed. Over a 5-month follow-up period, repeat MRI showed that the abnormal signals in the splenium of the corpus callosum had completely disappeared. Conclusion Reversible splenial lesion syndrome is a rare clinicoradiological disorder that can resolve spontaneously with a favorable outcome. Clinicians should be aware of this condition and that oxcarbazepine withdrawal is a possible etiological factor.


Author(s):  
Arpita Sahu ◽  
Kartik Mittal ◽  
Namita Kamath ◽  
Nandakumar PG ◽  
Amit Sahu

AbstractSplenium of corpus callosum can be involved in a variety of pathologies causing reversible or irreversible damage. Magnetic resonance imaging (MRI) is a useful investigation to evaluate the same. In spite of the differing etiologies implicated, MRI findings can be quite common. We review the reversible causes of diffusion restriction involving the splenium of corpus callosum and highlight the etiopathologic mechanisms implicated in these pathologies. We further discuss these pathologies in entirety with relevant clinical and laboratory findings helping make definitive diagnosis and guiding appropriate management.


2021 ◽  
Vol 18 (4) ◽  
pp. 72-74
Author(s):  
Halil Onder ◽  
Serdar Kirmizi

In this report, we present a rare patient with Wernicke encephalopathy (WE) in whom the initial magnetic resonance imaging (MRI) was normal. However, cranial MRI, performed two weeks later, showed lesions compatible with WE. Via the presentation of this patient, we discuss the need for future studies of larger cases including the temporal evaluation of the MRI characteristics of Wernicke encephalopathy.


2006 ◽  
Vol 12 (1) ◽  
pp. 112-115 ◽  
Author(s):  
R A Linker ◽  
A Mohr ◽  
L Cepek ◽  
R Gold ◽  
H Prange

Hypothermia is a rare condition in multiple sclerosis (MS). We report on a patient with a longstanding secondary progressive MS and six episodes of recurring hypothermia down to 29.98C with associated hypotension, bradycardia, coagulopathy and electrolyte dysequilibrium. Magnetic resonance imaging (MRI) demonstrated severe involvement of the corpus callosum with an associated lesion in the right posterior thalamus. These findings may link hypothermia in MS with callosal and associated thalamic pathology to Shapiro’s syndrome, where agenesis of the corpus callosum and associated abnormalities are related to episodic spontaneous hypothermia. In MS, hypothermic episodes may be triggered by preceding infections, as shown in the present case.


2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Jhon Perea ◽  
María Belén Luis ◽  
Luciana Grimanesa Lázaro ◽  
Sergio Scollo ◽  
Agustina Tamargo ◽  
...  

Marchiafava–Bignami disease (MBD) is a rare disorder of unknown etiology, strongly associated with alcoholism and malnutrition. MBD causes primary involvement of the corpus callosum, leading to confusion, dysarthria, seizures, and frequent death. We report the case of a 54-year-old male without a history of alcoholism or known malabsorption disease, who presented with altered consciousness and neurologic impairment. Complex B deficiency was addressed. Magnetic resonance imaging (MRI) showed typical corpus callosum lesions. The clinical features and radiologic images suggested spinal cord involvement. Brain histopathologic findings were consistent with MBD. Despite vitamin replacement therapy, he had a poor outcome.


2016 ◽  
Vol 39 (6) ◽  
pp. 21 ◽  
Author(s):  
Berin T Demir ◽  
Nezihe A Bayram ◽  
Zübeyde Ayturk ◽  
Hüsamettin Erdamar ◽  
Pelin Seven ◽  
...  

Purpose: The purpose of this study was to demonstrate the relationship among the cerebrum, cerebellum and corpus callosum in migraine patients. Methods: This work was conducted with cooperation of the Turgut Özal Medical Faculty, Department of Anatomy and Neurology. Migraine patients were divided into four groups: new patients; 1-5 years; 5-10 years; and, more than 10 years. All patients (n=75) and control subjects (n=20) underwent Magnetic Resonance Imaging (MRI) and brain images were processed by ONIS and Image J. Data were analyzed using the planimetric method. Results: Cerebrum, cerebellum and corpus callosum volume were calculated for all subjects. The footprints of the callosum were as follows: healthy control subjects, new patients and 1-year patients: 12.8%, 5 years: 11.7% and more than 10 years: 10.7%. The cerebrum volume was as follows: healthy control subjects: 1152 cm3, 5-10 years: 1102 cm3 and more than 10 years: 1002 cm3. Discussion: The results of our study showed atrophy in the cerebrum, cerebellum and corpus callosum of chronic migraine patients. This atrophy was greater in the patients with aura migraines. Conclusion: Our study confirmed that a migraine is an episodic disease that seriously affects the CNS.


2019 ◽  
Vol 2 (4) ◽  
pp. 1-6
Author(s):  
Huseyin Dag ◽  
Yelda Turkmenoglu ◽  
Tugce Aksu Uzunhan ◽  
Edebali Erdogan ◽  
Ozge Yapıcı Ugurlar ◽  
...  

Reverse Shapiro’s syndrome is described as unexplained hyperthermia coexisting with agenesis of the corpus callosum. Its pathophysiology dwells on the role of dopaminergic hypersensitivity caused by hypothalamic dysfunction. Until now, only 5 cases have been described in the literature as reverse Shapiro’s syndrome. We present a case of a 6-month-old girl who is now the sixth patient described in the literature. A 6-month-old female patient was admitted to the pediatrics unit for fever of unknown origin. Her fever occurred 2-3 times a day on average between 38°C and 39.5°C, and lasted for 1-2 hours. The fever was not diurnal, and antipyretics or staying in an air-conditioned room had no effect. She also had 2 convulsions during her hospital stay. Cranial magnetic resonance imaging (MRI) was requested owing to the patient’s convulsion history and retarded development. The cranial MRI showed diffuse hypoplasia of the corpus callosum in the midline sagittal T2-weighted image. T1-weighted imaging showed hypointensity due to delayed myelination of the genu of the corpus callosum (Figure 2, white arrow), which should normally appear hyperintense like the posterior limb of the internal capsule. Although dopamine agonists and serotonin agonists are recommended for the treatment, the rate of response to medical treatment is very low. Our patient did not benefit from cyproheptadine and methyl prednisolone.


2012 ◽  
Vol 19 (3) ◽  
pp. 308-315 ◽  
Author(s):  
Takahiro Makino ◽  
Shoichi Ito ◽  
Masahiro Mori ◽  
Tadahiro Yonezu ◽  
Yoshitsugu Ogawa ◽  
...  

Background: Callosal lesions in multiple sclerosis (MS) are usually focal, involving the inferior aspect of the corpus callosum on brain magnetic resonance imaging (MRI), but little is known about callosal lesions in neuromyelitis optica (NMO). Objective: To clarify MRI abnormalities in callosal lesions of NMO. Methods: Japanese patients with NMO ( n=28) or MS ( n=22) were assessed. The distributions and appearances of callosal lesions were evaluated on a brain mid-sagittal T2-weighted image (T2WI) or a fluid-attenuated inversion recovery image with a 1.5T MRI scanner. Logistic regression analysis identified which characteristics of the callosal lesions were useful for discriminating NMO from MS. Results: Callosal lesions were present in 79% of NMO and 82% of MS patients. Callosal abnormalities of NMO, including splenial lesions (57% in NMO versus 27% in MS, odds ratio (OR)=4.23, p=0.04), diffusely spreading lesions from the lower to upper edges of the corpus callosum (71% versus 23%, OR=7.18, p=0.0024), and heterogeneous T2 hyperintense lesions (71% versus 9%, OR=44.3, p=0.0006), were feasible for discriminating NMO from MS. Conclusion: Diffuse and heterogeneous T2 hyperintense splenial lesions were characteristic of NMO. These findings could help distinguish NMO from MS on MRI.


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