Progressive spastic paraparesis in a girl with short stature

نویسندگان
چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

A girl with short stature and dysmorphism

Case presentation A 5-year-9month old Chinese girl presented with severe growth retardation, height SDS -4.17 and body weight SDS -2.37. The mid-parental height was 151.2cm (3-10 centile). She was born small for gestational age with no catch-up growth. Congenital anomalies including right dysplastic kidney and large secundum atrial septal defect were present. She had delayed development with mi...

متن کامل

Phenylketonuria presenting in adulthood as progressive spastic paraparesis with dementia.

A 57 year old woman living independently in the community presented with four years of progressive spastic paraparesis and dementia. An extensive evaluation for the usual causes of these difficulties was unrevealing, but her serum phenylalanine concentration was markedly elevated and genetic analysis demonstrated mutations in the phenylalanine hydroxylase gene consistent with classic phenylketo...

متن کامل

Acquired progressive spastic paraparesis due to neurobrucellosis: a case report.

A 39-year-old man with a 4-month history of transient pins and needles sensations occurring below the waist while walking and difficulty walking presented to our outpatient clinic. He had an approximate 1-year history of bilateral hearing loss, the etiology of which was unknown. His symptoms had been progressive, and there was no significant family history. He demonstrated a spastic gait and re...

متن کامل

Simultaneous Occurrence of Turner Syndrome and Robertsonian Translocation in a Girl with Short Stature: A Case Report

Short stature is an important clinical feature of Turner syndrome (TS). In this report, a girl with short stature suspected to have Turner syndrome underwent cytogenetic analysis, which confirmd Turner syndrome by observing sex chromosomal monosomy using the karyotype test. In addition to Turner syndrome, Robertsonian (ROB) translocation t(13;14) was detected. As recommended by a genetic counse...

متن کامل

Tropical spastic paraparesis.

Human T-cell lymphotropic virus type I (HTLV-I) is the cause of endemic tropical spastic paraparesis (TSP) or HTLV-I-associated myelopathy (HAM). Because TSP/HAM is not a fatal disease, the neuropathology of this disease, albeit relatively well understood, is based on the examination of just a few incidental cases. We summarise our experience with the neuropathology of tropical spastic parapare...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: BMJ Case Reports

سال: 2019

ISSN: 1757-790X

DOI: 10.1136/bcr-2019-230569