scholarly journals Piebaldism in a 3-month-old infant: Case report

2014 ◽  
Vol 67 (3-4) ◽  
pp. 109-110
Author(s):  
Olgica Milankov ◽  
Radojica Savic ◽  
Anica Radulovic
Keyword(s):  
Case Report ◽  
Family History ◽  
Autosomal Dominant ◽  
Male Infant ◽  
Congenital Absence ◽  
Skin Involvement ◽  
Left Forearm ◽  
Autosomal Dominant Disorder ◽  
And Migration ◽  
Infant Case

Introduction. Piebaldism is an autosomal dominant disorder characterized by the congenital absence of melanocytes in the affected areas of skin and hair due to mutations of the KIT protooncogene, which affects the differentiation and migration of melanoblasts. Case report. A 3 ? month old male infant was admitted to hospital due to depigmentation of skin in the area of forehead, trunk and extremities. On admission, he had multiple, irregularly shaped areas of leucoderma present at the forehead, abdomen, lower legs and left forearm. Based on the characteristic skin features and family history, we diagnosed the boy?s leucoderma as piebaldism. Conclusion. Vitiligo differs from piebaldism by the presence of unstable hypopigmented lesions that are acquired later in life. Albinism presents with widespread skin involvement and lacks the characteristic hyperpigmented macules within hypopigmented areas.

Lemierre syndrome in a 5-month-old male infant: Case report and review of the pediatric literature

2008 ◽  
Vol 9 (5) ◽  
pp. e35-e37 ◽  
Author(s):  
François Aspesberro ◽  
Thomas Siebler ◽  
Jean-Paul Van Nieuwenhuyse ◽  
Eugène Panosetti ◽  
Françoise Berthet
Keyword(s):  
Case Report ◽  
Male Infant ◽  
Lemierre Syndrome ◽  
Infant Case

scholarly journals Familial Hypocalciuric Hypercalcaemia (FHH): A Case Report

2018 ◽  
Vol 3 (09) ◽  
Author(s):  
Tivya Kulasegaran ◽  
Pranav Kumar
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Parathyroid Hormone ◽  
Autosomal Dominant ◽  
Genetic Test ◽  
Calcium Sensor ◽  
Clearance Ratio ◽  
Autosomal Dominant Disorder ◽  
Casr Gene ◽  
Inactivating Mutation

Familial hypocalciuric hypercalcaemia (FHH) is a rare genetic autosomal dominant disorder, with 3 variants described. An inactivating mutation in the calcium sensor receptor (CASR) gene causes the subtype 1, which represents 65% of the cases. Inactivation of Ca-sensing receptors (CaSR) can also lead to hypercalcemia associated with increased parathyroid hormone (PTH) secretion.[1] It is characterised by causes mild asymptomatic hypercalcemia[2] and hypocalciuria with normal or elevated PTH. FHH is generally asymptomatic and treatment is not needed. Differential diagnosis with primary hyperparathyroidism (PHPT) is crucial and based on calcium-creatinine clearance ratio (CCCR), which, when under 0.02 points to the diagnosis of FHH.[3] Genetic test is necessary for confirmation.[4]

Moderate Grade Astrocytoma Presenting in a 4-Month-Old Child with a Family History of von Recklinghausen's Neurofibromatosis Spanning Four Generations: A Case Report

Neurosurgery ◽  
1983 ◽  
Vol 13 (6) ◽  
pp. 692-694
Author(s):  
Nancy E. Epstein ◽  
Alan D. Rosenthal ◽  
Jay Selman ◽  
Michael Osipoff ◽  
Roger A. Hyman
Keyword(s):  
Case Report ◽  
Family History ◽  
Autosomal Dominant ◽  
History Of ◽  
Thalamic Glioma ◽  
Von Recklinghausen's Neurofibromatosis ◽  
Neonatal Lesions ◽  
Von Recklinghausen’S Neurofibromatosis

Abstract Intracranial gliomas are found in association with von Recklinghausen's neurofibromatosis. However, few truly neonatal lesions have been identified and studied. This case report concerns a 4-month-old child who was found to have a massive thalamic glioma of moderate grade. Four paternal generations had suffered from different manifestations of this transmissible autosomal-dominant (Ad) phakomatosis.

Galactocele in a Male Infant: Case Report and Review of Literature

1993 ◽  
Vol 13 (3) ◽  
pp. 305-308 ◽  
Author(s):  
M. Boyle ◽  
K. Lakhoo ◽  
P. Ramani
Keyword(s):  
Case Report ◽  
Male Infant ◽  
Review Of Literature ◽  
Infant Case

scholarly journals Gorlin-Goltz Syndrome - An Unusual Case Report

2016 ◽  
Vol 5 (1) ◽  
pp. 1071
Author(s):  
B. Thayumanavan ◽  
T. Jeyanthikumari ◽  
P. Meghalapriya
Keyword(s):  
Case Report ◽  
Unusual Case ◽  
Autosomal Dominant ◽  
Keratocystic Odontogenic Tumor ◽  
Review Of Literature ◽  
Autosomal Dominant Disorder ◽  
Goltz Syndrome ◽  
Multisystemic Disease ◽  
Consistent Feature ◽  
Unusual Case Report

Gorlin-Goltz syndrome is an uncommon autosomal dominant disorder manifesting as a multisystemic disease. Keratocystic odontogenic tumor (KCOT) is considered as the most consistent feature of this syndrome. Dentists play a key role in making early diagnosis of this syndrome. Here we present a case of Gorlin- Goltz syndrome identified by multiple multilocular radiolucencies in the mandible. A review of literature of different diagnostic criteria for Gorlin-Goltz syndrome is also discussed.

Congenital Bilateral Shoulder Dimples in a Newborn Case report and Review of the literature

2020 ◽  
pp. 1-2
Author(s):  
Amin N A Soofi ◽  
◽  
Ola Abdelhadi ◽  
Abdelhadi Abdelhadi ◽  
◽  
...  
Keyword(s):  
Case Report ◽  
Family History ◽  
Cocaine Abuse ◽  
Autosomal Dominant ◽  
Review Of The Literature ◽  
Normal Range ◽  
Autosomal Dominant Pattern ◽  
New Born ◽  
Dominant Pattern ◽  
Normal Baby

Congenital Acromial or Shoulder dimples are cutaneous depressions overlying the acromial process of the scapula. They are usually bilateral and symmetrical. Isolated biacromial dimples are usually benign and warrant no further investigations. Family history in an autosomal dominant pattern, as in our case, is frequently obtainable but the majority of isolated bilateral shoulder dimples are sporadic. There are few reports of syndromic associations as well as two cases of associated maternal cocaine abuse. Our case is a term female neonate who was noted on routine new-born check to have bilateral symmetrical shoulder dimples. She was otherwise healthy, had normal range of shoulder movements and was not dysmorphic. On further assessment it transpired the father has the same bilateral shoulder dimples but was not aware of their existence. No further investigations were carried out. This case add to the few reported cases of Biacromial Dimples with autosomal pattern of inheritance in an otherwise normal baby

Osteoskeletal Manifestation of Scurvy in a Male Infant (Case Report)

2008 ◽  
Vol 1 (1) ◽  
pp. 64-67 ◽  
Author(s):  
Nada Pop-Jordanova ◽  
Nevenka Slavevska ◽  
Stojka Fustic
Keyword(s):  
Case Report ◽  
Male Infant ◽  
Infant Case

scholarly journals Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Mihir Kothari ◽  
Florence Manurung ◽  
Bhavesh Mithiya
Keyword(s):  
Case Report ◽  
Connective Tissue ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
Simultaneous Occurrence ◽  
Autosomal Dominant Disorder ◽  
First Case ◽  
Retraction Syndrome ◽  
Congenital Cranial Dysinnervation Disorder ◽  
Duane Retraction Syndrome

Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS) is a congenital cranial dysinnervation disorder (CCDD) which can be transmitted as autosomal dominant disorder in 5–10% of patients. In this paper, we present an 8-year-old girl who presented with left eye DRS and bilateral subluxation of the lens associated with MFS in absence of familial involvement. To our knowledge this is the first case report of DRS with MFS. The occurrence of these syndromes together is very rare and appears to be coincidental.

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