Dyneins play a critical role in a wide variety of cellular functions such as the movement of organelles and numerous aspects of mitosis, making it central player in neocortical neurogenesis and migration. Recently, cytoplasmic dynein-1, heavy chain-1 (DYNC1H1) mutations have been found to cause a wide spectrum of brain cortical malformations. We report on the detailed neuropathological features of brain lesions from 2 fetuses aged 36 and 22 weeks of gestation (WG), respectively, carrying de novo DYNC1H1 mutations, p.Arg2720Lys and p.Val3951Ala and presenting the most severe phenotype reported to date. Analysis using the Dictyostelium discoideum dynein motor crystal structure showed that the mutations are both predicted to have deleterious consequences on the function of the motor domain. Both fetuses showed a similar macroscopic and histological brain malformative complex associating bilateral fronto-parietal polymicrogyria (PMG), dysgenesis of the corpus callosum and of the cortico-spinal tracts, along with brainstem and cerebellar abnormalities. Both exhibited extremely severe disrupted cortical lamination. Immunohistochemical studies provided the evidence for defects in cell proliferation and postmitotic neuroblast ability to exit from the subventricular zone resulting in a failure of radial migration toward the cortical plate, thus providing new insights for the understanding of the pathophysiology in these cortical malformations.

The feasibility and reproducibility of liver stiffness measurements using Supersonic Shear-wave Imaging (SSI) in preterm neonate have not been reported. Our aim was to determine if liver stiffness differs between intra-uterine growth restriction (IUGR) and appropriate for gestational age (AGA) preterm infants with/without cholestasis. We measured liver stiffness (in kPa) in 45 AGA and 18 IUGR preterm infants, and assessed reproducibility in 26 preterms using Intraclass Correlation Coefficients (ICC) and Bland-Altman tests. Liver stiffness values were compared between AGA and IUGR with and without cholestasis and correlated with birth weight. Measurements showed high reproducibility (ICC = 0.94–0.98 for intra-operator, 0.86 for inter-operator) with good agreement (95% limits: -1.24 to 1.24 kPa). During the first postnatal week, liver stiffness was higher in IUGR (7.50 ±1.53 kPa) than in AGA infants (5.11 ±0.80 kPa, p<0.001). After day 8, liver stiffness remained unchanged in AGA but increased progressively in IUGR infants (15.57 ±6.49 kPa after day 21). Liver stiffness was higher in IUGR neonates with cholestasis (19.35 ± 9.80 kPa) than without cholestasis (7.72 ± 1.27 kPa, p<0.001). In conclusion, quantitative liver SSI in preterms is feasible and reproducible. IUGR preterms who will develop cholestasis present high liver stiffness even at birth, before biological cholestasis occurs.

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Introduction: Dandy-Walker malformation is a rare congenital malformation involving cystic dilatation of the fourth ventricle, enlarged posterior fossa, complete or partial agenesis of the cerebellar vermis, elevated tentorium cerebelli, and hydrocephalus. Previous research highlighted a possible role for the cerebellum in schizophrenia as well as the contribution of underlying brain malformations to treatment resistance. Here, we present a case of a Dandy-Walker malformation-like condition revealed by a refractory schizophrenia in a 24-year-old male patient. We also conduct a literature review of all previously published case reports or case series of co-occurring posterior fossa abnormalities and schizophrenia or psychosis using a PubMed search query to better understand the potential link between these two disorders. Case Presentation: A 9-month hospital stay was needed to address the treatment-resistant psychotic symptoms, and the patient continued to experience moderate symptoms despite the prescription of various antipsychotic and antidepressant medications. After an irregular initial medical follow-up, the patient is currently treated with 350 mg daily clozapine and 20 mg daily prazepam and still exhibits moderate anxiety without delirious thoughts, however allowing him to re-enroll at the university. Regarding the literature, 24 cases published between 1996 and 2017 were identified, reviewed and compared to the present case report. Discussion: This case report and literature review further illuminates the pathophysiology of psychotic disorders including the potential role of the cerebellum, reinforces the importance of a multidisciplinary approach for the neurological and psychiatric management of patients with schizophrenia, and highlights optimal pharmacological management strategies for treatment-resistant schizophrenia.

Digestive volvulus affects the stomach, small bowel and mobile segments of the colon and often has a developmental cause. Reference radiologic examinations include upper gastrointestinal contrast series for gastric volvulus, possibly with ultrasonography for small-bowel volvulus, and contrast enema for colonic volvulus. Treatment is usually surgical. This pictorial essay describes the embryological development and discusses the clinical and radiologic presentation of volvulus, depending on location, and details the appropriate radiologic examinations.

Pai syndrome is a rare disorder that includes midline cleft lip, pericallosal lipoma and cutaneous polyp of the face. We report a case of prenatal diagnosis using sonography and MRI. We emphasize the importance of facial examination with prenatal association of midline cleft lip and pericallosal lipoma in making the diagnosis of Pai syndrome.

Diagnosis of fetal spinal dysraphism is a challenge. It is difficult to distinguish between a meningocele, myelomeningocele, and a recently described entity called limited dorsal myeloschisis (LDM). Although myelomeningocele is associated with a poor prognosis, LDM can have a good outcome. We present a case of prenatally diagnosed LDM. Because sonographic examination revealed a round, cystic, septated cervical mass without associated cerebral anomalies, the lesion was initially considered an isolated meningocele. Fetal MRI contributed to correct the diagnosis. A diagnostic error can lead to the wrong surgical support or even the termination of pregnancy. Therefore, we highlight the importance of fetal MRI in such cases, particularly when no cerebral abnormalities are observed on sonographic examination.

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