Juvenile Spring Eruption in 4 Male Family Members over 3 Generations: A Case Report

Psychogenic polydipsia is one of the common cooccurrences with Schizophrenia and if not addressed can lead to fatal consequences. There are some evidences for pharmacological management of this condition but nonpharmacological management starting from psycho-education to behavioural modification therapy involving family members can be a very effective strategy. We report a case from Nepal where psychogenic polydipsia was complicated to hyponatremia and lead to seizure episodes. We emphasize on asking a routine question about polydipsia in every patient of Schizophrenia in clinics.

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Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members

British Journal of Dermatology ◽

10.1111/j.1365-2133.2007.08117.x ◽

2007 ◽

Vol 157 (5) ◽

pp. 1030-1031 ◽

Cited By ~ 18

Author(s):

L. Berroeta ◽

I. Man ◽

D.R. Goudie ◽

S.D. Whatley ◽

G.H. Elder ◽

...

Keyword(s):

Case Report ◽

Genetic Analysis ◽

Family Members ◽

Late Presentation ◽

Erythropoietic Protoporphyria

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Osteopoikilosis: Pain as a Presenting Symptom in Three Family Members

Clinical Medicine Insights Arthritis and Musculoskeletal Disorders ◽

10.4137/cmamd.s7035 ◽

2011 ◽

Vol 4 ◽

pp. CMAMD.S7035 ◽

Cited By ~ 7

Author(s):

M.A. Aghdashi ◽

M.M. Aghdashi ◽

M. Rabiepoor

Keyword(s):

Case Report ◽

Young Woman ◽

Pelvic Pain ◽

Autosomal Dominant ◽

Family Members ◽

Familial Occurrence ◽

Autosomal Dominant Pattern ◽

Dominant Pattern ◽

Radiological Examinations

Osteopoikilosis is a rare asymptomatic sclerosing bony dysplasia of benign origin. It is usually found incidentally on radiological examinations. Familial occurrence indicates a genetic milieu with autosomal dominant pattern. Here, we present a case report of a young woman suffering from pelvic pain due to osteopoikilosis (OPK). The same disorder was later found in her son and daughter.

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Neuropsychologist’s Experience with the DIRFloortime Concept. A Clinical Case Report

Autism and Developmental Disorders ◽

10.17759/autdd.2019170207 ◽

2019 ◽

Vol 17 (2) ◽

pp. 87-96

Author(s):

S.A. Shishkina

Keyword(s):

Case Report ◽

Emotional Development ◽

Clinical Case ◽

Family Members ◽

Individual Characteristics ◽

Simple Games ◽

Joint Work ◽

The Family ◽

Speech Therapist

The article analyzes the experience of the joint work of a speech therapist and a neuropsychologist using the DIRFloortime concept on a clinical case of a boy L., 3.5 years of age. The following tasks were solved during the sessions: the child’s advancement along the first stages of functional emotional development, taking into account his individual characteristics; work with the family: establishing a partnership, teaching the family members the basics of the DIRFloortime approach. As a result of the sessions, the child’s understanding of speech and implementation of instructions have significantly improved; he started using meaningful words and phrases for communication; his emotional and non-verbal repertoire expanded, the boy learned to play simple games with rules with an adult.

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Osteopoikilosis - Case report

Open Access Macedonian Journal of Medical Sciences ◽

10.3889/oamjms.2014.024 ◽

2014 ◽

Vol 2 (1) ◽

pp. 132-134

Author(s):

Vilson Ruci ◽

Dorina Serani

Keyword(s):

Case Report ◽

Malignant Transformation ◽

Family Members ◽

Clinical Signs ◽

Medical Complications ◽

Bone Lesions ◽

Radiological Findings

Osteopoikilosis is a rare bone anomaly usually benign which may be confused with other severe primary diseases or dangerous metastatic bone lesions. We present one new case describing typical radiological findings with no clinical signs or other associations. No malignant transformation or other complications happened in the last ten years. Osteopoikilosis is found in most cases incidentally, and in most cases is not associated with other serious medical complications. Screening of family members may be considered.

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Coronavirus Disease-19 (COVID-19) associated with severe acute pancreatitis: Case report on three family members

Pancreatology ◽

10.1016/j.pan.2020.04.021 ◽

2020 ◽

Vol 20 (4) ◽

pp. 665-667 ◽

Cited By ~ 44

Author(s):

Amer Hadi ◽

Mikkel Werge ◽

Klaus Tjelle Kristiansen ◽

Ulf Gøttrup Pedersen ◽

John Gásdal Karstensen ◽

...

Keyword(s):

Acute Pancreatitis ◽

Case Report ◽

Severe Acute Pancreatitis ◽

Family Members

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Case report on novel mutation in SPAST gene in Polish family with spastic paraplegia

BMC Neurology ◽

10.1186/s12883-019-1561-6 ◽

2019 ◽

Vol 19 (1) ◽

Author(s):

Aleksandra Klimkowicz-Mrowiec ◽

Anna Dziubek ◽

Malgorzata Sado ◽

Marek Karpiński ◽

Agnieszka Gorzkowska

Keyword(s):

Case Report ◽

Genetic Testing ◽

Family History ◽

Lower Limb ◽

Hereditary Spastic Paraplegia ◽

Novel Mutation ◽

Family Members ◽

Spastic Paraplegia ◽

Limb Spasticity ◽

Lower Limb Spasticity

Abstract Background Hereditary spastic paraplegia is a large group of degenerative, neurological disorders characterized by progressive lower limb spasticity and weakness. The disease was investigated precisely but still clinicians often make incorrect or late diagnosis. Our aim was to investigate the genetic background and clinical phenotype of spastic paraplegia in large Polish family. Case presentation A 37 years old woman presented with 4-year history of walking difficulties. On neurological examination, she had signs of upper motor lesion in lower extremities. She denied sphincter dysfunction and her cognition was normal. Her family history was positive for individuals with gait problems. The initial diagnosis was familial spastic paraplegia. Genetic testing identified a novel mutation in SPAST gene. All available family members were examined and had genetic testing. The same mutation in SPAST gene was identified in other affected family members. All patients caring the mutation presented with different phenotypes. Conclusion This study presents a family with spastic paraplegia due to a novel mutation c.1390G›T(p.Glu464Term) in SPAST gene. Affected individuals showed a range of phenotypes that varied in their severity. This case report demonstrates, the signs of hereditary spastic paraplegia can be often misdiagnosed with other diseases. Therefore genetic testing should always be considered in patients with lower limb spasticity and positive family history in order to help to establish the correct diagnosis.

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