RESUMO
Diencephalic-mesencephalic junction dysplasia (DMJD) is very rare congenital brain malformation. We present a 66-years-old man with mild cognitive impairment, dysarthria, deafness, gait abnormality, and involuntary movements of the trunk. The first symptoms, psychomotor excitation and anxiety begun when he was over thirty years old however the symptoms gradually intensified and slowly progressed. The magnetic resonance imaging scans showed partial DMJD. According to recent date it represented type-B of the malformation with relatively mild phenotype in relation to the previously described in literature type-A. To the best of our knowledge this is the first description of an adult patient diagnosed with DMJD anomaly.
Assuntos
Diencéfalo/anormalidades , Mesencéfalo/anormalidades , Idoso , Humanos , MasculinoRESUMO
INTRODUCTION: We aimed to describe the clinico-radiological findings of patients with disorders of diencephalic-mesencephalic junction (DMJ) formation and midbrain anteroposterior patterning. METHODS: We reviewed the DMJ anatomy of 445 patients with brain malformations. Associated supra/infratentorial abnormalities and clinical findings were noted. Craniocaudal and anteroposterior diameters of midbrain, pons, medulla, vermis, and transverse cerebellar diameter were compared with age-matched controls. Post hoc tests were corrected according to Bonferroni (p(B)). RESULTS: Two patterns of DMJ anomaly were identified in 12 patients (7 females, mean age 41 months). Type A was characterized by hypothalamic-mesencephalic fusion on axial plane, with possible midbrain ventral cleft (7 patients). Anteroposterior (p(B) = .006) and craniocaudal (p(B) = .027) diameters of the pons, craniocaudal diameter of the vermis (p(B) = .015), and transverse cerebellar diameter (p(B) = .011) were smaller than the controls. Corticospinal tract, basal ganglia, and commissural anomalies were also associated. Clinical findings included spastic-dystonic tetraparesis, hypothalamic dysfunction, epilepsy, and severe developmental delay. Type B was characterized by incomplete thalamic-mesencephalic cleavage on sagittal plane, with parenchymal bands connecting the interthalamic adhesion with the midbrain (five patients). Anteroposterior diameters of midbrain (p(B) = .002), pons (p(B) = .0004), and medulla (p(B) = .002) as well as the vermian anteroposterior (p(B) = .040) and craniocaudal diameters (p(B) = .014) were smaller than the controls. These patients were less neurologically impaired, most presenting mild developmental delay. CONCLUSIONS: The spectrum of DMJ patterning defects is wide and may be associated with several brain malformations. Infratentorial brain structures should be carefully evaluated to better define the type of associated midbrain-hindbrain anomalies.
Assuntos
Anormalidades Múltiplas/diagnóstico , Diencéfalo/anormalidades , Mesencéfalo/anormalidades , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos RetrospectivosAssuntos
Tosse/complicações , Diencéfalo/anormalidades , Transtornos da Cefaleia Secundários/etiologia , Mesencéfalo/anormalidades , Malformações do Sistema Nervoso/complicações , Malformações do Sistema Nervoso/patologia , Adulto , Diencéfalo/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Masculino , Mesencéfalo/diagnóstico por imagem , Malformações do Sistema Nervoso/diagnóstico por imagem , Malformações do Sistema Nervoso/cirurgia , Terceiro Ventrículo/cirurgia , Ventriculostomia , Adulto JovemAssuntos
Anormalidades Múltiplas/diagnóstico por imagem , Diencéfalo/anormalidades , Mesencéfalo/anormalidades , Ultrassonografia Pré-Natal , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Diencéfalo/diagnóstico por imagem , Feminino , Aconselhamento Genético , Idade Gestacional , Humanos , Mesencéfalo/diagnóstico por imagem , GravidezRESUMO
Cell division cycle 48 (CDC48), a ubiquitin-dependent molecular chaperone, is thought to mediate a variety of degradative and regulatory processes and maintain cellular homoeostasis. To investigate the protective function of CDC48 against accumulated ubiquitinated proteins during neurodevelopment, we developed an in vivo bioassay technique that detects expression and accumulation of fluorescent proteins with a polyubiquitination signal at the N terminus. When we introduced CDC48 antisense morpholino oligonucleotides into zebrafish embryos, the morphant embryos were lethal and showed defects in neuronal outgrowth and neurodegeneration, and polyubiquitinated fluorescent proteins accumulated in the inner plexiform and ganglion cell layers, as well as the diencephalon and mesencephalon, indicating that the degradation of polyubiquitinated proteins by the ubiquitin-proteasome system was blocked. These abnormal phenotypes in the morphant were rescued by CDC48 or human valosin-containing protein overexpression. Therefore, the protective function of CDC48 is essential for neurodevelopment.
Assuntos
Adenosina Trifosfatases/metabolismo , Proteínas de Ciclo Celular/metabolismo , Degeneração Neural/metabolismo , Complexo de Endopeptidases do Proteassoma/metabolismo , Ubiquitina/metabolismo , Peixe-Zebra/embriologia , Peixe-Zebra/metabolismo , Adenosina Trifosfatases/química , Adenosina Trifosfatases/genética , Animais , Proteínas de Ciclo Celular/química , Proteínas de Ciclo Celular/genética , Divisão Celular/fisiologia , Diencéfalo/anormalidades , Diencéfalo/metabolismo , Regulação da Expressão Gênica no Desenvolvimento/fisiologia , Regulação Enzimológica da Expressão Gênica/fisiologia , Mesencéfalo/anormalidades , Mesencéfalo/metabolismo , Neurônios Motores/citologia , Neurônios Motores/metabolismo , Degeneração Neural/fisiopatologia , Fenótipo , Estrutura Terciária de Proteína , Células Ganglionares da Retina/citologia , Células Ganglionares da Retina/enzimologia , Medula Espinal/anormalidades , Medula Espinal/metabolismo , Proteína com Valosina , Peixe-Zebra/genéticaRESUMO
We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a characteristic 'butterfly'-like contour of the midbrain on axial sections. Additional imaging features included variable degrees of supratentorial ventricular dilatation and hypoplasia to complete agenesis of the corpus callosum. Diffusion tensor imaging showed diffuse hypomyelination and lack of an identifiable corticospinal tract. All patients displayed severe cognitive impairment, post-natal progressive microcephaly, axial hypotonia, spastic quadriparesis and seizures. Autistic features were noted in older cases. Talipes equinovarus, non-obstructive cardiomyopathy and persistent hyperplastic primary vitreous were additional findings in two families. One of the patients required shunting for hydrocephalus; however, this yielded no change in ventricular size suggestive of dysplasia rather than obstruction. We propose the term 'diencephalic-mesencephalic junction dysplasia' to characterize this autosomal recessive malformation.
Assuntos
Diencéfalo/anormalidades , Diencéfalo/patologia , Genes Recessivos/genética , Mesencéfalo/anormalidades , Mesencéfalo/patologia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Linhagem , Adulto JovemRESUMO
The histogenesis of colloid cysts of the third ventricle remains unsettled. Initial theories favored a neuroepithelial (paraphysis, ependyma, choroid plexus) origin and some investigators based on morphologic analysis have offered an alternative endodermal source. We report a case of colloid cyst of the third ventricle arising in association with a remnant which we believe corresponds to the paraphysis cerebri in man.
Assuntos
Cistos Coloides/patologia , Diencéfalo/anormalidades , Terceiro Ventrículo/anormalidades , Terceiro Ventrículo/patologia , Adulto , Fatores Etários , Biópsia , Cistos Coloides/diagnóstico por imagem , Humanos , Masculino , Terceiro Ventrículo/diagnóstico por imagem , Tomografia Computadorizada por Raios XRESUMO
Diencephalic-mesencephalic junction dysplasia is a rare malformation characterized by a poorly defined junction between the diencephalon and the mesencephalon, associated with a characteristic butterfly-like contour of the midbrain (butterfly sign). This condition may be variably associated with other brain malformations, including callosal abnormalities and supratentorial ventricular dilation, and is a potential cause of developmental hydrocephalus. Here, we have reported 13 fetuses with second-trimester obstructive ventriculomegaly and MR features of diencephalic-mesencephalic junction dysplasia, correlating the fetal imaging with available pathology and/or postnatal data. The butterfly sign can be clearly detected on axial images on fetal MR imaging, thus allowing for the prenatal diagnosis of diencephalic-mesencephalic junction dysplasia, with possible implications for the surgical management of hydrocephalus and parental counseling.
Assuntos
Diencéfalo/anormalidades , Diencéfalo/diagnóstico por imagem , Mesencéfalo/anormalidades , Mesencéfalo/diagnóstico por imagem , Malformações do Sistema Nervoso/diagnóstico por imagem , Adulto , Feminino , Feto , Idade Gestacional , Humanos , Hidrocefalia/congênito , Hidrocefalia/diagnóstico por imagem , Imageamento por Ressonância Magnética , Gravidez , Segundo Trimestre da Gravidez , Diagnóstico Pré-NatalRESUMO
Holmes' tremor is a low-frequency hand tremor and has varying amplitude at different phases of motion. It is usually unilateral and does not respond satisfactorily to drugs and thus considered irreversible. Structural lesions in the thalamus and brainstem or cerebellum are usually responsible for Holmes' tremor. We present a 23-year-old woman who presented with unilateral Holmes' tremor. She also had hypersomnolence and headache in the sitting posture. Her brain imaging showed brain sagging and deep brain swelling due to spontaneous intracranial hypotension (SIH). She was managed conservatively and had a total clinical and radiological recovery. The brain sagging with the consequent distortion of the midbrain and diencephalon was responsible for this clinical presentation. SIH may be considered as one of the reversible causes of Holmes' tremor.
Assuntos
Diencéfalo/fisiopatologia , Distúrbios do Sono por Sonolência Excessiva/fisiopatologia , Cefaleia/fisiopatologia , Hipotensão Intracraniana/fisiopatologia , Imageamento por Ressonância Magnética , Mesencéfalo/fisiopatologia , Tremor/fisiopatologia , Diencéfalo/anormalidades , Diencéfalo/diagnóstico por imagem , Distúrbios do Sono por Sonolência Excessiva/diagnóstico por imagem , Distúrbios do Sono por Sonolência Excessiva/etiologia , Feminino , Hidratação , Decúbito Inclinado com Rebaixamento da Cabeça/fisiologia , Cefaleia/diagnóstico por imagem , Cefaleia/etiologia , Humanos , Hipotensão Intracraniana/complicações , Hipotensão Intracraniana/terapia , Mesencéfalo/anormalidades , Mesencéfalo/diagnóstico por imagem , Postura , Resultado do Tratamento , Tremor/diagnóstico por imagem , Tremor/etiologia , Adulto JovemRESUMO
The diencephalon is the caudal part of the forebrain and is organized into easily identifiable clusters of neurons called nuclei. Neurons in different nuclei project to discrete brain regions. Thus precise organization of the nuclei during forebrain development is necessary to build accurate neural circuits. How diencephalic development is regulated is poorly understood. BMP signaling participates in central nervous system patterning and development at many levels along the neural axis. Based on their expression we hypothesized BMPs play a role in diencephalic development. To test this hypothesis, we electroporated constitutively active and dominant negative forms of type I BMP receptors (Bmpr1a and Bmpr1b) into the embryonic chick forebrain. Ectopic induction of BMP signaling through constitutively active forms of the type I BMP receptors perturbs the normal gene expression patterns in the diencephalon and increases apoptotic cell death. These defects lead to disorganization of the diencephalic nuclei, suggesting BMP signaling is sufficient to modify diencephalic development. Loss-of-function studies, using dominant negative forms of Bmpr1a and Bmpr1b, indicate type I BMP receptors are necessary for normal eye and craniofacial development. However, they do not appear to be required for normal diencephalic development. In summary, our data indicate that while not necessary, BMP signaling via Bmpr1a and Bmpr1b, is sufficient to modify nuclear organization in the chick diencephalon.
Assuntos
Proteínas Morfogenéticas Ósseas/metabolismo , Diencéfalo/embriologia , Diencéfalo/metabolismo , Proteínas Serina-Treonina Quinases/metabolismo , Receptores de Fatores de Crescimento/metabolismo , Transdução de Sinais , Animais , Apoptose , Receptores de Proteínas Morfogenéticas Ósseas Tipo I , Encéfalo/anormalidades , Encéfalo/citologia , Encéfalo/embriologia , Encéfalo/metabolismo , Embrião de Galinha , Anormalidades Craniofaciais/embriologia , Anormalidades Craniofaciais/metabolismo , Diencéfalo/anormalidades , Diencéfalo/citologia , Olho/embriologia , Olho/metabolismo , Regulação da Expressão Gênica no Desenvolvimento , Morfogênese , Fenótipo , Proteínas Serina-Treonina Quinases/genética , Receptores de Fatores de Crescimento/genética , Fatores de Tempo , Fatores de Transcrição/metabolismoRESUMO
Mice with mutations in the Wnt coreceptor low-density lipoprotein receptor-related protein-6 (LRP6) have a smaller and severely disorganized dorsal thalamus and lack thalamocortical projections. Using molecular markers, we showed that most dorsal thalamic and epithalamic neurons were missing, and most of the major dorsal thalamic nuclei were not identifiable. However, the ventral thalamus was essentially unaffected, although the dorsal thalamic defect leads to rostral displacement of portions of the ventral thalamus. Analysis of younger embryos showed that epithalamic and dorsal thalamic neurons were not produced at early stages of development, whereas ventral thalamic neurons were still produced. These defects were accompanied by improper formation of the boundary between dorsal and ventral thalamus, the zona limitans interthalamica (ZLI). Furthermore, the expression of an early marker of posterior forebrain development that marks the compartment from the midbrain-hindbrain junction to the ZLI (including the future dorsal thalamus, pretectum, and midbrain) was disrupted, supporting the idea that diencephalic development is abnormal from very early in embryogenesis. This study provides compelling in vivo evidence that thalamic development requires normal activity of the LRP6-mediated canonical Wnt signaling pathway.
Assuntos
Peptídeos e Proteínas de Sinalização Intercelular/fisiologia , Receptores de LDL/fisiologia , Tálamo/embriologia , Animais , Proteínas do Citoesqueleto/fisiologia , Diencéfalo/anormalidades , Diencéfalo/embriologia , Idade Gestacional , Proteínas Hedgehog , Proteínas Relacionadas a Receptor de LDL , Proteína-6 Relacionada a Receptor de Lipoproteína de Baixa Densidade , Camundongos , Camundongos Knockout , Morfogênese , Proteínas Proto-Oncogênicas/análise , Proteínas Proto-Oncogênicas/deficiência , Proteínas Proto-Oncogênicas/fisiologia , Receptores de LDL/deficiência , Receptores de LDL/genética , Transdução de Sinais/fisiologia , Núcleos Talâmicos/anormalidades , Núcleos Talâmicos/embriologia , Tálamo/anormalidades , Transativadores/análise , Transativadores/deficiência , Transativadores/fisiologia , Proteínas Wnt , Proteína Wnt-5a , beta CateninaRESUMO
Pax6 expression in the diencephalon of the mouse embryo is restricted both antero-posteriorly and dorso-ventrally, with changes in level occurring at prosomere boundaries. Small eye (Pax6Sey-1Neu) mice homozygous for Pax6 mutations have multiple defects in early forebrain development. In the diencephalon of Pax6Sey-1Neu/Pax6Sey-1Neu mice there is an apparent enlargement of the zona limitans (the boundary region between prosomeres p2 and p3), and a blurring of the p1-p2 boundary. PAX6 function is also required for the normal development of the posterior commissure at the midbrain-p1 boundary. In the posterior diencephalon PAX6 appears to regulate its own transcription, and that of Wnt7b. In p2 and p3, ventral markers are expressed more dorsally than normal, and this is accompanied in p3 by a reduction in the size of the zona incerta. Thus, PAX6 is essential for the normal development and regionalization of the diencephalon.
Assuntos
Proteínas de Ligação a DNA/genética , Diencéfalo/embriologia , Proteínas de Homeodomínio , Mutação , Animais , Sequência de Bases , Proteínas de Ligação a DNA/metabolismo , Diencéfalo/anormalidades , Proteínas do Olho , Feminino , Regulação da Expressão Gênica no Desenvolvimento , Homozigoto , Hibridização In Situ , Camundongos , Camundongos Endogâmicos ICR , Modelos Biológicos , Mutagênese Insercional , Bulbo Olfatório/anormalidades , Bulbo Olfatório/embriologia , Sondas de Oligonucleotídeos/genética , Fator de Transcrição PAX6 , Fatores de Transcrição Box Pareados , Fenótipo , Gravidez , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Proteínas Repressoras , Teto do Mesencéfalo/anormalidades , Teto do Mesencéfalo/embriologiaRESUMO
A distinct triad of central nervous system (CNS) malformations (prosencephalic dysgenesis, occipital exencephalocele and rhombic roof dysgenesis) was present in seven cases of the Meckel-Gruber syndrome examined at autopsy. We compared our findings with those previously described. Microcephaly, sloping forehead, posterior occipital exencephalocele, cerebellar hypoplasia, Chiari malformation, hydrocephalus, polymicrogyria, arhinencephaly, holoprosencephaly and anencephaly constituted a broad spectrum of the reported CNS anomalies. Few reports contained a comprehensive description of the observed CNS malformations. In those reports, and in our cases, features of prosencephalic dysgenesis included agenesis of olfactory bulbs and tracts (arhinencephaly), hypoplasia of optic nerves and chiasm, agenesis of corpus callosum, fused thalami or complete holoprosencephaly. The occipital encephalocele has consisted of a displacement of rhombic roof elements, including caudal third ventricle, cerebellar vermis and fourth ventricle, extruded through an enlarged posterior fontanelle rather than through an occipital cranium bifidum and is thus more precisely labeled an exencephalocele. Different degrees of dysgenesis of posterior fossa structures, described by some as a variant of Dandy-Walker cyst with features of a Chiari malformation, were often associated with this occipital exencephalocele. This pattern of CNS anomalies represents a triad of malformations probably associated with defective ventral induction of the developing CNS by the prechordal mesoderm.
Assuntos
Anormalidades Múltiplas/patologia , Sistema Nervoso Central/anormalidades , Disostose Craniofacial/patologia , Autopsia , Diencéfalo/anormalidades , Feminino , Humanos , Recém-Nascido , Masculino , Rombencéfalo/anormalidades , SíndromeRESUMO
This investigation was carried out to determine the early structural abnormalities of the cephalic region in a genetic mutant of the rat characterized by prenatal aqueductal stenosis and hydrocephalus. The appearance of hydrocephalic and control embryos was examined on days 13-15 of gestation, and the structure and organization of the neuroepithelium and basal lamina were studied using scanning electron microscopy. In addition to some overall developmental delay, hydrocephalic embryos were characterized by abnormalities of forebrain and midbrain development, and eye and external ear anomalies. There were also associated defects of the midfacial region. The lateral cell surface of the neuroepithelium reflected the developmental delay of hydrocephalic embryos, and failed to undergo the morphogenetic cell-shaping changes seen in control embryos. There were also variations in the number of lateral cell-cell specializations as well as regions of neuroepithelial disorganization and occasional herniation into the mesenchymal compartment. The role of the neuroepithelial basal lamina and extracellular matrix in the development of these defects is considered.
Assuntos
Encéfalo/embriologia , Face/embriologia , Hidrocefalia/embriologia , Ratos Mutantes/embriologia , Animais , Membrana Basal/ultraestrutura , Encéfalo/anormalidades , Aqueduto do Mesencéfalo/anormalidades , Aqueduto do Mesencéfalo/embriologia , Diencéfalo/anormalidades , Diencéfalo/embriologia , Orelha Externa/anormalidades , Orelha Externa/embriologia , Epitélio/ultraestrutura , Olho/embriologia , Anormalidades do Olho , Face/anormalidades , Feminino , Idade Gestacional , Hidrocefalia/congênito , Masculino , Mesencéfalo/anormalidades , Mesencéfalo/embriologia , Microscopia Eletrônica de Varredura , Ratos , Ratos Endogâmicos , Telencéfalo/anormalidades , Telencéfalo/embriologiaRESUMO
This report describes the computerized tomographic, pneumoencephalographic, and anatomic findings in a case of holoprosencephaly. Computerized tomography is suggested as the most accurate diagnostic method in defining the nature and extent of those anomalies related to the failure of cleavage of the prosencephalon. The value of this method in detecting less severely affected family members is evident.
Assuntos
Encéfalo/anormalidades , Pneumoencefalografia , Espasmos Infantis/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Agenesia do Corpo Caloso , Gânglios da Base/anormalidades , Córtex Cerebral/anormalidades , Diencéfalo/anormalidades , Humanos , Lactente , MasculinoRESUMO
As holoprosencephaly without chromosome defect may be associated with other CNS-related anomalies such as mental retardation, mental illness, facial paralysis, endocrine disorders, deafness, spina bifida, and myelomeningocele, we present a family in which one girl had a myelomeningocele, a brother had orbital hypotelorism, facial and cerebral asymmetries, cerebral palsy, abducens paralysis, and inner ear deafness. A 3rd pregnancy was terminated at 16 weeks; the fetus had cyclopia. A common cause is discussed in these cases and in those families in which holoprosencephaly and additional malformations occur among different generations.
Assuntos
Anormalidades Múltiplas/genética , Surdez/genética , Anormalidades do Olho , Meningomielocele/genética , Defeitos do Tubo Neural/genética , Nervo Abducente/anormalidades , Criança , Diencéfalo/anormalidades , Feminino , Morte Fetal/etiologia , Humanos , Hipertelorismo/genética , Recém-Nascido , Gravidez , Telencéfalo/anormalidadesRESUMO
Absence of the adhesio interthalamica (AI) in schizophrenic first episode patients is suggestive for another marker of early developmental neuropathologic changes. Moreover, findings suggest that schizophrenic patients without AI are characterised by more severe negative symptoms. The study aims to investigate the presence vs. absence of AI in relation to brain measurements and clinical features. Presence or absence of AI and volumetric brain measurements were assessed in 50 patients with schizophrenia and 50 matched controls. No differences in the incidence of AI were found between the groups. Patients without AI revealed a strong trend towards a larger third ventricle and significantly higher scores for negative symptoms. Interestingly, the subgroup of healthy controls without AI also had larger third ventricles. The absence of AI may represent another early developmental marker of cerebral malformation in a clinical subgroup of schizophrenic patients.
Assuntos
Diencéfalo/anormalidades , Esquizofrenia/diagnóstico , Adolescente , Adulto , Biomarcadores , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Terceiro Ventrículo/anormalidadesRESUMO
Three cases of alobar, semilobar, and lobar types of holopresencephaly are reported. Their neuroradiological features and differential diagnosis are described.
Assuntos
Diencéfalo/anormalidades , Telencéfalo/anormalidades , Anormalidades Múltiplas , Angiografia Cerebral , Pré-Escolar , Diencéfalo/diagnóstico por imagem , Diencéfalo/patologia , Feminino , Humanos , Lactente , Masculino , Telencéfalo/diagnóstico por imagem , Telencéfalo/patologia , Tomografia Computadorizada por Raios XRESUMO
A long survived case of holoprosencephaly with hydrocephalus has been infrequently reported in the literature. One such case were presented on this report. This male baby by cesarean section because of his large head circumferenced 45 cm. He was admitted to our clinic diagnosed as congenital hydrocephalus at the third day from birth. On admission the circumference of his head was measured 49 cm, but other external malformations were not noticed. Right transaxillary carotid angiogram showed anterior cerebral artery appeared like azygos anterior cerebral artery. Absence of falx and fornix were suspected pneumoventriculography and transillumination of the head. Finally he was diagnosed as holoprosencephaly accompanied with hydrocephalus by computed tomography. Ventriculo-peritoneal shunt was performed at the 22nd day of his life. On follow-up after discharge, mental and motor development was not so poor. He was able to speak a few of simple words one year after discharge. At present 4 years and 6 months after discharge, he can do simple conversation and walk with assistance. Repeated computed tomography shows the frontal cerebral mantle is thickening in 36 mm at present. Good resulted case of holoprosencephaly as presented here could not be found in the literature. The pathogenesis and treatment were also discussed here.