Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II.

We report the case of a boy (aged 3 years and 7 months) with severe growth failure (length: -9.53 SDS; weight: -9.36 SDS), microcephaly, intellectual disability, distinctive craniofacial features, multiple skeletal anomalies, micropenis, cryptorchidism, generalized hypotonia, and tendon retraction. Abdominal US showed bilateral increased echogenicity of the kidneys, with poor corticomedullary differentiation, and a slightly enlarged liver with diffuse irregular echotexture. Initial MRI of the brain, performed at presentation, showed areas of gliosis with encephalomalacia and diffused hypo/delayed myelination, and a thinned appearance of the middle and anterior cerebral arteries. Genetic analysis evidenced a novel homozygous pathogenic variant of the pericentrin (PCNT) gene. PCNT is a structural protein expressed in the centrosome that plays a role in anchoring of protein complexes, regulation of the mitotic cycle, and cell proliferation. Loss-of-function variants of this gene are responsible for microcephalic osteodysplastic primordial dwarfism type II (MOPDII), a rare inherited autosomal recessive disorder. The boy died at 8 years of age as a result of an intracranial hemorrhage due to a cerebral aneurism associated with the Moyamoya malformation. In confirmation of previously published results, intracranial anomalies and kidney findings were evidenced very early in life. For this reason, we suggest including MRI of the brain with angiography as soon as possible after diagnosis in follow-up of MODPII, in order to identify and prevent complications related to vascular anomalies and multiorgan failure.

Duplication of the Pituitary Gland (DPG)-Plus Syndrome Associated With Midline Anomalies and Precocious Puberty: A Case Report and Review of the Literature.

Duplication of the pituitary gland (DPG)-plus syndrome is a very rare developmental disorder with few cases described in the literature and characterized by multiple midline and central nervous system malformations. The hypothalamus and hypophysis involvement may be clinically associated with endocrine abnormalities. A 5.9-year-old female child was admitted to our Clinic for premature thelarche and acceleration of growth. DPG-plus syndrome with paired infundibula and pituitary glands was diagnosed after birth, when she appeared small for gestational age and she presented with lingual hypoplasia, cleft palate, right choanal stenosis, nasopharyngeal teratoma, and facial dysmorphisms. Neuroimaging revealed a duplication of the infundibula, the pituitary gland, and the dens of the epistropheus despite surgical removal of a rhino-pharyngeal mass performed at the age of two months. An array-CGH revealed a 2p12 deletion. At our evaluation, bone age assessment resulted advanced and initial pubertal activation was confirmed by Gonadotropin-Releasing Hormone stimulation test. Hormonal suppression treatment was started with satisfactory results. This case shows that DPG-plus syndrome must be considered in presence of midline and craniofacial malformations and endocrinological evaluations should be performed for the prompt and appropriate management of pubertal anomalies.

A painful stiff neck following an ear, nose, and throat surgical procedure: case report.

Grisel syndrome is a rare, nontraumatic atlantoaxial subluxation, typical of developmental ages and characterized by head flexion/rotation and painful fixation. Neurological symptoms may occur. It is secondary to head/neck infections and ear, nose, and throat surgery (adenoidectomy, tonsillectomy, and mastoidectomy). Here, we report the case of a child who presented a painful stiff neck following an adenotonsillectomy, with imaging evidencing an atlantoaxial subluxation. The child showed improvement in his condition following a conservative treatment with antibiotics, anti-inflammatory, and analgesic therapy and cervical collar. We believe it is of great significance for clinicians taking into account this peculiar condition in the differential diagnosis of a stiff neck in pediatric patients, thus avoiding misdiagnosis and delays. Indeed, its diagnosis is mainly based on a focused anamnesis associated with the detection of the typical neuroradiological findings.

Partitioned versus duplicated internal auditory canal: when appropriate terminology matters.

OBJECTIVE: A double internal auditory canal (IAC) is an uncommon malformation among temporal bone anomalies related to sensorineural hearing loss. This anomaly has been described as an isolated finding in otherwise normal patients, as well as a frequent feature in pontine tegmental cap dysplasia (PTCD). In both circumstances, the term duplication is currently used to describe this malformation. We conducted a retrospective study on 3 cases of IAC duplication (2 isolated and 1 PTCD-associated form) and reviewed the literature to evaluate both imaging features and differences between the 2 forms. INTERVENTION(S): All 3 patients underwent high-resolution computed tomography and magnetic resonance imaging. RESULTS: Neuroimaging documented different radiologic features between isolated and PTCD-associated IAC duplication. In the isolated form, the IAC seemed to have normal position and size, but it was partitioned in 2 portions by a complete or incomplete bony septum. Conversely, in the PTCD-associated form, neuroimaging revealed the presence of 2 separated and anomalously coursing canals for the facial and vestibulocochlear nerve. CONCLUSION: The aforementioned different radiologic findings probably reflect a more complex spectrum of etiopathogenetic mechanisms affecting the facioacoustic primordium and leading to overlapping anomalies of the IAC. We speculate on the appropriate terminology in describing this entity and propose that "partition" should be used to describe a double IAC otherwise normal in size and location; conversely, "duplication" should be reserved for IAC anomalies encountered in patients with PTCD or other hindbrain malformations.

Goldenhar syndrome associated with contralateral agenesis of the internal carotid artery.

Congenital absence of the internal carotid artery (ICA) is an extremely rare vascular anomaly. Aplasia and displacement of the horizontal portion of the petrous carotid artery have been described in a patient with mandibulofacial dysostosis. To the best of our knowledge, the association between Goldenhar syndrome and ipsilateral ICA agenesis has emerged only in one case documented in the medical literature to date. We describe here a case that illustrates the association of Goldenhar syndrome with contralateral agenesis of the ICA incidentally detected on brain magnetic resonance imaging and subsequently confirmed on magnetic resonance angiography and high resolution computed tomography.

Unilateral ectopic parotid gland in CHARGE syndrome.

Unilateral absence of a parotid gland at the expected location is an extremely rare condition with only a few cases reported in the medical literature and, to our knowledge, never previously described in association with CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness). Although this entity is usually associated with a complex constellation of anomalies, additional findings have been described, including cranial nerve dysfunction (VII, VIII, IX and X). We present a case that illustrates the association of CHARGE syndrome with absence of parotid gland at normal location with ectopic parotid tissue lateral to masseter muscle, incidentally detected on brain MRI and subsequently confirmed on neck MRI.

Bilateral cerebellopontine angle lipomas.

Cerebellopontine angle (CPA) lipomas are extremely rare lesions and usually unilateral. We describe a case of a 36-year-old man with bilateral aural fullness that was discovered to have bilateral CPA lipomas associated with an abnormal hindbrain segmentation appearance. The patient was evaluated with 3.0T magnetic resonance imaging (MRI) system. MRI demonstrated the presence of bilateral CPA masses partially extending into the internal auditory canals. These lesions were hyperintense on both T1- and T2 weighted images. Facial and vestibulo-cochlear nerves together with tortuous vascular structures and fibro-connective septa were identified on T2-weighted 3D Fast Imaging Employing Steady-state Acquisition (FIESTA) sequences as areas of lower intensity coursing through the masses. Gadolinium administration yielded no enhancement. Conservative management was adopted.

Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients.

Pontine Tegmental Cap Dysplasia (PTCD) is a recently described, rare disorder characterized by a peculiar cerebellar and brainstem malformation. Nineteen patients have been reported to date, of which only one in the adolescent age, and data on the clinical, cognitive and behavioural outcome of this syndrome are scarce. Here we describe three adolescent patients with PTCD. All presented bilateral deafness and multiple cranial neuropathies, variably associated with skeletal, cardiac and gastro-intestinal malformations. Feeding and swallowing difficulties, that are often causative of recurrent aspiration pneumonias and death in the first years of life, completely resolved with age in all three patients. Neuropsychological assessment showed borderline to moderate cognitive impairment, with delay in adaptive functioning, visual-spatial and language deficits. Two of three patients also showed mild behavioural problems, although their overall socialization abilities were well preserved. Cochlear implantation in two patients significantly improved their relational and learning abilities. Fibre tractography confirmed the abnormal bundle of transversely oriented fibres forming the typical pontine "tegmental cap" and absence of decussation of the superior cerebellar peduncles, supporting the hypothesis that PTCD results from abnormal axonal guidance and/or migration.These data indicate that PTCD may have a favourable long-term outcome, with borderline cognitive deficit or even normal cognition and partially preserved speech.

Cochlear implantation in pontine tegmental cap dysplasia.

Pontine tegmental cap dysplasia (PTCD) is an exceptionally rare brain stem and cerebellar malformation characterized by ventral pontine hypoplasia, vaulted pontine tegmentum, hypoplasia of the vermis, subtotal absence of middle cerebellar peduncles, lateralized course of the superior cerebellar peduncles, and absence or alteration of the inferior olivary nucleus. The main clinical features are multiple cranial neurophaties and ataxia. Sensorineural hearing loss of varying severity is almost always present. To date, 14 cases of PTCD have been reported in the literature. We present a child with PTCD and profound bilateral sensorineural hearing loss who underwent cochlear implantation. To the best of our knowledge, cochlear implantation in PTCD has not been previously reported. Functional outcome was assessed using the Speech Perception Categories and the Speech Intelligibility Rating scale. At 22 months' postoperative evaluation, the patient who was placed into speech perception category 0 (no detection of speech) preoperatively progressed to category 3 (beginning word identification). Before implantation, the child had connected speech unintelligible. At the last follow-up, she had connected speech intelligible to a listener who has little experience of a deaf person's speech. Cochlear implantation allowed this child to improve her quality of life, increasing her self-confidence, independence, and social integration.

Diagnostic imaging of diffuse infiltrative disease of the lung.

Plain chest radiography remains the first diagnostic approach to diffuse infiltrative lung disease but has limited diagnostic sensitivity and specificity. Many diseases remain occult or are not correctly assessed using chest X-ray, appearing as a nonspecific 'reticulonodular pattern'. High-resolution CT (HRCT) is actually the recommended imaging technique in the diagnosis, assessment, and follow-up of these diseases, allowing also the evaluation of the effectiveness of the medical therapy and the selection of the type and the location of the biopsy when required. Appropriate techniques must be used to acquire high-quality HRCT scans, with the thin collimation and high spatial reconstruction algorithm being the most important factors. A nodular pattern, linear and reticular opacities, cystic lesions, ground-glass opacities and consolidations are the most common HRCT patterns of diffuse infiltrative lung disease. This article reviews the role of chest radiography and HRCT in the diagnosis and assessment of these diseases, the technical aspects of HRCT, its clinical indications and the radiological pattern of the most common types of chronic diffuse infiltrative lung disease.