A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3

In recent years, a rare form of autosomal recessive brachyolmia associated with amelogenesis imperfecta (AI) has been described as a novel nosologic entity. This disorder is characterized by skeletal dysplasia (e.g., platyspondyly, short trunk, scoliosis, broad ilia, elongated femoral necks with coxa valga) and severe enamel and dental anomalies. Pathogenic variants in the latent transforming growth factor-β binding protein 3 (LTBP3) gene have been found implicated in the pathogenesis of this disorder. So far, biallelic pathogenic LTBP3 variants have been identified in less than 10 families. We here report a young boy born from consanguineous parents with a complex phenotype including skeletal dysplasia associated with aortic stenosis, hypertrophic cardiomyopathy, hypodontia and amelogenesis imperfecta caused by a previously unreported homozygous LTBP3 splice site variant. We also compare the genotypes and phenotypes of patients reported to date. This work provides further evidence that brachyolmia with amelogenesis imperfecta is a distinct nosologic entity and that variations in LTBP3 are involved in its pathogenesis.

Parotid carcinoma following chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids: a case report

Background Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is an inflammatory disorder with unclear causes. Paraneoplastic etiology may be a cause. We report a case of CLIPPERS with parotid carcinoma. Case presentation A 54-year-old man with a history of lymphoma was hospitalized with a pontocerebellar syndrome. Brain MRI revealed that the pons and cerebellum were “peppered” with punctate and curvilinear enhancement lesions that supported the diagnosis of CLIPPERS. The relapse of lymphoma was excluded by a further cerebellum biopsy revealing predominantly CD3+ T cells in white matter. The patient was relieved after pulse therapy with intravenous methylprednisolone and a large dose of corticosteroids, but he complained of a worsening gait problem when corticosteroids were tapered to a lower dose. Although the clinical symptoms gradually improved again by increasing the dosage of corticosteroids with Azathioprine, the patient still had a slight unsteady gait during follow-up. At the 7-month follow-up, a parotid mass was detected by MRI and was verified as carcinoma by biopsy. After resection of parotid carcinoma, the residual symptoms and previous MRI lesions disappeared, and no relapse occurred. Conclusions CLIPPERS may not be a distinct nosologic entity but an overlapping diagnosis with other diseases. Some cases of CLIPPERS might be a subtype of paraneoplastic neurological syndromes (PNS) due to the similar mechanism of antibody-mediated encephalitis. Tumor screening and serum paraneoplastic autoantibody tests are recommended for patients with CLIPPERS, especially for those who relapse when corticosteroids treatment is stopped or tapered.

Ataxic-hypotonic cerebral palsy in a cerebral palsy registry

ObjectiveTo specifically report on ataxic-hypotonic cerebral palsy (CP) using registry data and to directly compare its features with other CP subtypes.MethodsData on prenatal, perinatal, and neonatal characteristics and gross motor function (Gross Motor Function Classification System [GMFCS]) and comorbidities in 35 children with ataxic-hypotonic CP were extracted from the Canadian Cerebral Palsy Registry and compared with 1,804 patients with other subtypes of CP.ResultsPerinatal adversity was detected significantly more frequently in other subtypes of CP (odds ratio [OR] 4.3, 95% confidence interval [CI] 1.5–11.7). The gestational age at birth was higher in ataxic-hypotonic CP (median 39.0 weeks vs 37.0 weeks, p = 0.027). Children with ataxic-hypotonic CP displayed more intrauterine growth restriction (OR 2.6, 95% CI 1.0–6.8) and congenital malformation (OR 2.4, 95% CI 1.2–4.8). MRI was more likely to be either normal (OR 3.8, 95% CI 1.4–10.5) or to show a cerebral malformation (OR 4.2, 95% CI 1.5–11.9) in ataxic-hypotonic CP. There was no significant difference in terms of GMFCS or the presence of comorbidities, except for more frequent communication impairment in ataxic-hypotonic CP (OR 4.2, 95% CI 1.5–11.6).ConclusionsOur results suggest a predominantly genetic or prenatal etiology for ataxic-hypotonic CP and imply that a diagnosis of ataxic-hypotonic CP does not impart a worse prognosis with respect to comorbidities or functional impairment. This study contributes toward a better understanding of ataxic-hypotonic CP as a distinct nosologic entity within the spectrum of CP with its own pathogenesis, risk factors, clinical profile, and prognosis compared with other CP subtypes.

Subcutaneous Dorsal Penile Vein Thrombosis or Penile Mondor’s Disease: A Case Report and Literature Review

A 34-year-old man, trader, and married with four wives, otherwise healthy, without any remarkable medical history, was admitted in urology ward in emergency with superficial venous thrombosis of the penis known also as Penile Mondor’s Disease (PMD), a rare nosologic entity of the penis associated with pain and an indurated dorsal cord of the root of the penis. The patient receives nonsteroidal anti-inflammatory drugs and coagulation and platelet aggregation inhibitors drugs. Healing and total recovery occur after eight weeks without any complications.

Cardiac cephalalgia: A deadly case report

Cardiac cephalalgia is a nosologic entity that has only been acknowledged by the turn of the century, and is, consequently, often underdiagnosed, even by experienced neurologists. Unlike most headaches, however, failing to provide a proper and timely diagnosis can have deadly consequences. Report of a case of cardiac headache attended at the emergency department and literature review. This entity was first described in 1997; no studies have yet determined its prevalence, with the literature relying on case reports. The pathophysiology remains a mystery, with three main hypothesis: spinal convergence of cardiac visceral afferent nerves with somatic afferent nerves from the head, increase of intracranial pressure from decrease in cerebral venous return originated from the reduced cardiac output, and release of inflammatory markers during cardiac ischaemia, such as bradykinin, serotonin and histamin, causing vascular changes. Distinguishing this pathology from others, especially migraine, with which it shares many traits, is of paramount importance: vasoconstrictor drugs such as triptans are absolutely contraindicated, and the outcome can be dramatic. This case illustrates the need to promptly recognize this rare entity since failure to diagnose it can have devastating consequences.

Enduring phenotype of episodic status migrainosus in a prospectively identified patient

Episodic status migrainosus is a previously described migraine variant where the exclusive phenotype is that of relapsing status migrainosus. The majority of cases have been reported based on retrospective chart review. A prospectively identified case fulfilling previously published criteria for episodic status migrainosus is reported, with an enduring pattern of attacks meeting criteria for status migrainosus over a 35-year period. A family history in a maternal aunt of a similar phenotype was noted. This prospectively identified case further validates the existence of episodic status migrainosus as a novel nosologic entity. The family history in our case suggests the possibility of genetic susceptibility. Perspective regarding a potential temporal continuum between acute migraine, status migrainosus, and new daily persistent headache is described. Status migrainosus may occur both as a complication of migraine and in the pure form of episodic status migrainosus.