Macrocephaly and Megalencephaly

Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry

This chapter reviews isolated and syndromic causes of macrocephaly and megalencephaly. The two terms are usually but not always interchangeable. The differential diagnosis of macrocephaly includes familial macrocephaly, chromosome duplications and deletions, metabolic disorders and complex somatic mosaic conditions including CLOVES, MCAP and MPPH. Single gene disorders with macrocephaly include those in the Noonan syndrome spectrum (RASopathies). Syndromes with hemimegalencephaly, including linear nevus sebaceous and tuberous sclerosis are briefly reviewed. Many syndromes with macrocephaly have associated overgrowth and are covered in the Overgrowth chapter as well, including Weaver, Sotos and Malan syndromes. A clinical case presentation features an infant with basal cell nevus syndrome.

2018 ◽  
Vol 27 (1) ◽  
pp. 19-27 ◽  
Author(s):  
Cem Leblebici ◽  
Buket Bambul Sığırcı ◽  
Canan Kelten Talu ◽  
Sevim Baykal Koca ◽  
Gülben Erdem Huq

Background. Trichoblastoma (TB) and basal cell carcinoma (BCC) are 2 different neoplasms composed of basaloid cells and have overlapping histopathological features. We compared the immunoexpression of CD10, T-cell death-associated gene 51 (TDAG51), cytokeratin 20 (CK20), androgen receptor (AR), insulinoma-associated protein 1 (INSM1), and nestin for the differential diagnosis of these tumors. Materials and Methods. We assessed a total of 27 BCC and 27 TB cases, including 4 TB lesions in nevus sebaceous and 3 malignant TB lesions for CD10, TDAG51, CK20, AR, INSM1, and nestin expression. Results. Staining for CK20, TDAG51, INSM1, and stromal CD10 was significantly more common in TB cases than in BCC cases ( P < .001). Epithelial CD10 and AR staining was significantly more common in BCC cases than in TB cases ( P < .001). The difference between the groups for nestin staining was not significant ( P > .05). Stromal CD10 staining was the most sensitive marker (96.3%) and INSM1 the least sensitive (55.6%) marker for TB. TDAG51 showed 100% specificity for TB. A larger number of CK20 positive cells was found in the cases associated with nevus sebaceous than in the other TBs. Conclusion. All the selected markers except nestin were useful for the differential diagnosis between TB and BCC. CD10 and TDAG51 were more useful than the other markers. The use of CK20 could be preferred in nevus sebaceous lesions. INSM1 was less effective in highlighting Merkel cells within the lesion than CK20.


Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry

This chapter reviews background information about the incidence, epidemiology, genetics, and other anomalies associated with common congenital anomalies of the upper extremity. The discussion reviews the differential diagnosis of transverse, longitudinal (amelia, radial, ulnar), intercalary (phocomelia), and central (split hand/foot) defects of the radius and ulna and combined upper and lower extremity defects. The chapter summarizes common causes of upper extremity anomalies, including amniotic band disruption sequence, teratogenic agents (misoprostol, thalidomide, valproic acid), vascular disruption, chromosome anomalies, and Mendelian congenital malformation syndromes, and it gives recommendations for evaluation and management. A clinical case presentation features an infant with Holt–Oram syndrome.


Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry

This chapter reviews background information about the prevalence, sex ratio, genetics, recurrence risk and epidemiology of isolated and syndromic preaxial, postaxial and mesoaxial (central) polydactyly of the hands and feet. Various patterns of isolated and bilateral polydactyly and common associated malfomations (syndactyly, craniosynsostosis, GI anomalies, macrocephaly, mocrpcephaly, renal cysts) are described. The discussion on the differential diagnosis of polydactyly summarizes its common causes, including teratogenic agents, diabetic embryopathy, chromosome anomalies, and congenital malformation syndromes caused by Mendelian traits. It gives recommendations for evaluation and management. A clinical case presentation features an infant with tibial hypoplasia/aplasia with polydactyly (Werner mesomelic syndrome).


2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Mirabela Oana Dumitrache ◽  
Adriana Györke ◽  
Gianluca D’Amico ◽  
Viorica Mircean

Abstract Background Leporacarus gibbus is a highly specific acarian parasitizing in rabbits, with a proven zoonotic potential. While the majority of cases of L. gibbus infestation are asymptomatic, several cases of pruritic cutaneous condition in both laboratory and pet rabbits were reported. Up to date, L. gibbus has not been linked with clinical signs in any other species than rabbits and humans. Case presentation This case report described the clinical case of a 14-month-old cat with a dermatitis linked to L. gibbus. Mites specimens were collected by brushing, followed by light microscopy examination and species identification. To the best of our knowledge, this is the first report of L. gibbus-related dermatitis in cat. Conclusions L. gibbus infestation should be considered as a possible differential diagnosis of pruritic skin conditions in cat.


1971 ◽  
Vol 36 (1) ◽  
pp. 115-124 ◽  
Author(s):  
Arnold E. Aronson

This is a study of a 20-year-old girl who developed mild, breathy dysphonia which, because of its nonspecificity, had been previously diagnosed as psychogenic; in actuality her voice change was a sign of early myasthenia gravis. The case is presented to alert the clinician to the fact that voice changes can be one of the first and only signs of early neurologic disease. Differential diagnosis requires careful laryngologic, psychiatric, speech, and neurologic examinations. In this instance, the laryngologic and psychiatric examinations were nonproductive, but the speech examination elicited a marked increase in breathiness, hypernasality, and articulatory imprecision as the consequence of prolonged, effortful speaking. This finding, along with the neurologist’s demonstration of an increase in muscular strength by means of injecting edrophonium chloride (Tensilon) led to the diagnosis of myasthenia gravis. A summary of the incidence, clinical features, methods of examination, and treatment of this disease follow the case presentation.


2017 ◽  
Vol 41 (S1) ◽  
pp. S449-S449
Author(s):  
M.D. Ortega Garcia ◽  
M.V. Marti Garnica ◽  
S. Garia Marin ◽  
C. Martinez Martinez ◽  
R. Gomez Martinez ◽  
...  

Description/clinical caseA. is a 10-year-old girl of Moroccan origin appearing in pediatric specialist of A.P repeatedly by unspecific stomachache, nausea and vomiting. After several visits to the same reason for consulting an exploratory interview alone with the patient in that regard that “sometimes when calms nervous scratching the walls and eating them” is performed. The mother says intrafamily difficulties. Information reported by the patient's mother confirms next visit also providing pictures on the wall of your room is returned. Referral to child and adolescent mental health is decided.Exploration/complementary testsThere is no single test for pica. It is carried out systematic blood, biochemical (iron, zinc, lead…) to assess toxic substances and nutritional levels. Abdominal Rx. Both normal.DiagnosisPica (F98.3).Differential diagnosisIngestion of nutrients can occur in the course of other mental disorders (for example, a pervasive developmental disorder, schizophrenia), mental retardation, in the Kleine–Levin syndrome… In these cases, should only be established an additional diagnosis of pica if the feeding behavior is sufficiently severe to warrant independent clinical attention.ConclusionsPica disorder has been studied by pediatricians, gynecologists, dermatologists, psychiatrists, psychologists, nutritionists, anthropologists, etc., which has been interpreted as a conduct disorder, food, mental illness, poverty, hunger… but really the cause it is unknown. Although morbidity and mortality is unknown and difficult to study, include poisonings, parasitosis and surgical abdomen as serious complications. Finally, like all other eating disorders, the overall management of this entity requires the coordinated intervention of various professionals.Disclosure of interestThe authors have not supplied their declaration of competing interest.


2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Julien Flament ◽  
Nathan Scius ◽  
Henri Thonon

Abstract Background Cannabis use is on the rise. Several cases of cannabinoid hyperemesis syndrome, secondary to chronic cannabis intoxication, have been described worldwide, but few cases have described this entity in pregnant women. Case presentation We describe a 29-year-old pregnant patient that had consumed cannabis and experienced uncontrolled vomiting. The use of hot baths, the rapid improvement in symptoms, and results of complementary examinations suggested a diagnosis of cannabinoid hyperemesis syndrome. The patient could return home, and she continued her pregnancy and childbirth without peculiarities. Conclusion Cannabinoid hyperemesis syndrome should be considered in the differential diagnosis of vomiting in pregnancy. Consumption of cannabis must be systematically included in the anamnesis. However, it seems to be somewhat unacceptable socially or medically. Consumption must be stopped to manage symptoms.


2019 ◽  
Vol 220 (1) ◽  
pp. S589
Author(s):  
Pooja Mohan ◽  
Sheetal Parmar ◽  
Jennifer Saucier ◽  
Russel Jelsema ◽  
Kendra Eaves ◽  
...  

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