Bir Olgu Nedeniyle Doğumsal Metabolik Hastalıklara Bağlı Parmak Ucunda Yürüme

Yıl 2018, Cilt: 8 Sayı: 1, 37 - 40, 30.04.2018

İşıl Özer

Öz

DOI: 10.26650/experimed.2018.431791

Parmak ucunda yürüme ve  nöral tüp defektleri, genellikle nörolojik ve
ortopedik olgu sunumları  olarak
yayınlarda sunulmaktadır.  Altı yıllık
poliklinik tecrübemiz nedeniyle parmak ucunda yürümede Metilen Tetra Hidro
Folat Redüktaz (MTHFR) polimorfizmlerine dikkat çekmek için bu olgu seçildi. On
yaşındaki kız hasta parmak ucunda yürüme ve hafif nörolojik gerilikle başvurdu.
Aile öyküsünde anneannede inme dışında önemli bulgu yoktu. Öne çıkan klinik
bulguları obezite, sakral gamze ve parmak ucunda yürümeydi. Laboratuvar
değerlendirmesinde orta derecede lipid yüksekliği, MTHFR A1298C heterozigot
mutasyonu görülmekteydi. Spinal manyetik rezonans görüntüleme (MRI) ile
incelemede hipoplazik disk, spondilolistezis ve filar lipom tespit edildi.
Klinik hasta izlemimiz sırasında 8000 hastanın 11 kız 9 erkek cinsiyette olan
toplam 20 hastada parmak ucunda yürüme tespit edildi. Bunların hastalıklara
göre dağılımı 3 geç tanı fenilketonüri (PKU), 2 metakromatik lökodistrofi
(MLD), 1 L (OH) glutarik asidüri, 3 yağ aside oksidasyon bozukluğu (FAO), 1
mitokondriyal hastalık ve 10 MTHFR şeklindeydi. 
FAO grubunda ağrılı kas kramp atakları ve kas enzim artışları sırasında
parmak ucunda yürüme gözlenmişti. PKU ve MLD’li hastalarda kalıcı nörolojik
sorunlarla parmak ucunda yürüme ilişkisi görülmekteydi. Kısa Aşil tendonu L2
(OH) Glutarik asidüri hastası parmakucunda yürüme nedeniydi. MTHFR’li hastalarda
nöral tüp defektleri ön plandaydı (1 sirengomiyeli, 1 filar lipom, 2
spondilolistezis ve 1 gergin kord). Erken döneminde parmak ucunda yürüme
tanımlanan otizm etiolojisinde MTHFR de yer almaktadır. Hastalarımızdan birinde
otizm tanısı vardı. Parmak ucunda yürüme sadece Aşil tendon ameliyatı ile
düzeltilebilecek kadar basit bir sorun değildir. Altta yatan sorunun
araştırılması gerekir. 

Anahtar Kelimeler

Parmak ucunda yürüme, kalıtsal metabolik hastalıklar, Otizm, MTHFR

Toe Walking Caused by Congenital Metabolic Diseases following a Specific Case

Öz

DOI: 10.26650/experimed.2018.431791

According to the literature on cases of toe
walking, neural tube defects generally refer to orthopedic and neurologic case
reports. The case of toe walking has been selected to present the information
obtained from our patient group monitored for 6 years and to draw attention to
Methylene Tetra Hydro Folate Reductase (MTHFR) polymorphisms. A 10 year-old
female patient has was applied for toe walking and mild neurologic retardation.
Her family history was unremarkable, except for family history of stroke in her
grandfather. Her prominent clinical findings were obesity, sacral dimple and toe
walking. The laboratory assessment showed that moderately high lipid levels and
MTHFR A1298C heterozygote mutation. A hypoplasic disc, spondylolisthesis and
filar lipoma were detected in a spinal MRI. The final diagnoses of 20/8000
patients (11 female, 9 male) monitored in our clinic due to the symptoms of toe
walking were as follows: 3 late diagnosed phenylketonuria (PKU), 2
metachromatic leuko-dystrophy (MLD), 1L (OH) glutaric aciduria, 3fatty acids
oxidation defect (FAO), 1 mitochondrial disease and 10 MTHFR.  A problem was detected in medium chain fatty
acids in the patients with FAO. The complaint was considered to be muscle cramp
due to increased muscle enzymes and aches throughout the complaint period.
Considering neurological findings, the difficulties in walking were apparent in
PKU and MLD patients. A short Achilles tendon was included in neurological
findings in the patients diagnosed with L2 glutaric aciduria and mitochondrial
diseases. From MTHFR patients, syringomyelia was found in one patient with
sacral central line asymmetry and filar lipoma was detected in the remaining
patients with deep sacral center lines whereas spondylolisthesis was observed
in 2 patients and the presence of tethered cord was found in 1 patient. Toe
walking refers to a finding defined as an early symptom of autism. MTHFR has
been associated with autism. The autism like symptom was found only in one
patient. The treatment of walking on the tip of the toe is not as simple as
achieving success with local Achilles tendon surgery alone. It would be vital
to find out the underlying cause.

Anahtar Kelimeler

Toe walking, congenital metabolic diseases, autism, MTHFR

Kaynakça

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