Severe hyperbilirubinemia in a neonate with hereditary spherocytosis due to a de novo ankyrin mutation: A case report

Mutations in the CACNA1A gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotide missense mutation in exon 25 of the CACNA1A gene (c.4055G>A, p.R1352Q). The R1352Q CACNA1A variant shares the phenotype with other described CACNA1A mutations and highlights the interesting association of trauma as a precipitant for hemiplegic migraine. Subjects with early-onset sporadic hemiplegic migraine triggered by minor head injury or associated with seizures, ataxia or episodes of encephalopathy should be screened for mutations. These patients should also be advised to avoid activities that may result in head trauma, and anticonvulsants should be considered as prophylactic migraine therapy.

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De novo adenocarcinoma of the lacrimal gland: Case report

Annals of Medicine and Surgery ◽

10.1016/j.amsu.2021.102234 ◽

2021 ◽

pp. 102234

Author(s):

Moctar Issiaka ◽

Sanaa Ayyadi ◽

Mohamed El Belhadji

Keyword(s):

Case Report ◽

Lacrimal Gland ◽

De Novo

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De Novo Development of a Cavernous Malformation of the Brain: Significance of Factors with Paracrine and Endocrine Activity: Case Report

Neurosurgery ◽

10.1227/00006123-200203000-00042 ◽

2002 ◽

Vol 50 (3) ◽

pp. 646-650 ◽

Cited By ~ 6

Author(s):

Wolf Lüdemann ◽

Verena Ellerkamp ◽

Alexandru C. Stan ◽

Sami Hussein

Keyword(s):

Case Report ◽

De Novo ◽

Cavernous Malformation ◽

Endocrine Activity ◽

The Brain

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Prolonged Survival in Patients with Metastatic HER2-Positive Inflammatory Breast Cancer: A Case Report and Review of the Literature

Case Reports in Oncology ◽

10.1159/000516760 ◽

2021 ◽

pp. 1071-1079

Author(s):

Jennifer Y. Ge ◽

Beth Overmoyer

Keyword(s):

Breast Cancer ◽

Case Report ◽

Inflammatory Breast Cancer ◽

Targeted Therapies ◽

De Novo ◽

Review Of The Literature ◽

Her2 Positive ◽

Rare Type ◽

Favorable Prognosis ◽

Poor Outcomes

Inflammatory breast cancer (IBC) is a rare type of breast cancer that is associated with poor outcomes compared with non-IBC. Overexpression of HER2 is enriched in IBC, and those with HER2-positive disease have a relatively favorable prognosis, with improved survival over the last two decades driven by the advent of novel targeted therapies. Here, we present two patients who have survived for over 10 years after being diagnosed with de novo metastatic HER2-positive IBC. We review the data for the treatments available for metastatic HER2-positive IBC and the evolving treatment recommendations for this disease.

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Dupilumab induced phenotype switch from atopic dermatitis to psoriasis is characterized by de novo IL‐17A expression: a case report

British Journal of Dermatology ◽

10.1111/bjd.20064 ◽

2021 ◽

Author(s):

F.N. Mirza ◽

A. Wang ◽

S.M. Ramachandran ◽

W. Damsky ◽

J.M. Cohen

Keyword(s):

Atopic Dermatitis ◽

Case Report ◽

De Novo ◽

Phenotype Switch

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De Novo Partial 13q22-q34 Trisomy with Typical Neurological and Immunological Findings: A Case Report with New Genetic Insights

Brain Sciences ◽

10.3390/brainsci11010021 ◽

2020 ◽

Vol 11 (1) ◽

pp. 21

Author(s):

Claudia Brogna ◽

Valentina Milano ◽

Barbara Brogna ◽

Lara Cristiano ◽

Giuseppe Rovere ◽

...

Keyword(s):

Case Report ◽

De Novo ◽

Partial Trisomy ◽

Cerebral Vasculitis ◽

Radiological Findings ◽

Cerebral Lesions ◽

Brain Malformations ◽

Vermian Hypoplasia ◽

Callosal Dysgenesis ◽

First Time

The partial trisomy 13q encompasses an extensive variability of phenotypic and radiological findings including leukoencephalopathy and brain malformations such as holoprosencephaly, callosal dysgenesis, hippocampal hypoplasia, olfactory hypoplasia, and vermian hypoplasia. We report for the first time a case of a 23-year-old patient affected by de novo partial 13q22.1q34 trisomy (41.7 Mb, 72,365,975-114,077,122x3) presenting with hemiparesis related to both ischemic and haemorrhagic cerebral lesions compatible with cerebral vasculitis due to a possible combination of genetic and immunological interaction.

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