Leukodystrophies

Young child, Neurodegenerative dis with macrocephaly: canavan, Alexander, magelencephalic leukoencephalopathy with subcortical cyst.

Other leukoencephalopathy and macrocephaly: Childhood ataxia with central nervous system hypomylination(CACH)_Megalencephaly, L2 ---Glutaric aciduria, GM2 gangliosidosis

specific clinical features:
.Addison's disease in Adrenoleukodystrophy

hypodontia in Pol-III related or 4H leukodystrophy

Ectodermal Dysplasia

group of closely related conditions, of 150 different syndromes
"affecting the development or function of the teeth, hair, nails and sweat glands"

C/f
Absence of sweat glands: decreased or absent sweating
Poorly tolerate high grade fever, due to absence of sweating...high grade fever can lead to brain damage and seizures early.

Hypodontia or Adontia
Thin sparse depigmented hair
Decreased tear formation
Hypoplastic nail
Large forehead and depressed nasal bridge
May have, hearing and vision problem and learning disabilities
Recurrent nasal blockage can cause recurrent resp. Infections.

Diagnosis:
X ray bone teeth
Biopsy, skin & teeth
Genetic testing

Treatment:
According to symptoms
Avoid hot weather
Frequent bathing in cold water
Saline nasal spray, wig, denture, artificial tear

Prognosis:
Good, doesn't shorten life, take care of high temp.

Prevention:
Genetic testing

GENETICS: more than 7000 people affected worldwide, some disorders are restricted to a family

Sjögren-Larsson syndrome

Syndromic obesity

Cause: Alright syndrome
              Prader-Willi synd
               Bardel beidel synd(ciliopathy)
              Cohen syndrome

 

Aneuploidy

TURNER SYNDROME

urner synd: in foetus, presents with cystic hygroma, webbed neck, puffiness of hand and feet

TRISOMY 18

ABNORMALITIES Seen  IN more than 50% cases:

General.
Feeble cry, lethargic
 premature,or postmature;
polyhydramnios,
IUGR;
deficient skeletal muscle, subcutaneous and adipose tissue;
mental retardation.
Craniofacial.
Prominent occiput,
 narrow bifrontal diameter;
low-set, malformed auricles;
short palpebral fissures; small oral opening,
Narrow palatal arch;
Micrognathia.

Hands and Feet.
Clenched hand, tendency for overlapping of index finger over third, fifth finger over fourth;
 absence of distal crease on fifth finger with or without distal creases on third and fourth fingers;
 low-arch dermal ridge pattern on six or more fingertips;
 hypoplasia of nails, especially on fifth finger and toes;
short hallux, frequently dorsiflexed.

Thorax.
Short sternum, with reduced number of ossification centers; small nipples.

Abdominal Wall.
Inguinal or umbilical hernia and/or diastasis recti.

Pelvis and Hips.
Small pelvis, limited hip abduction.
Genitalia.
Male: cryptorchidism.

Skin. Redundancy, mild hirsutism of forehead and back, prominent cutis marmorata.
Cardiac. Ventricular septal defect, auricular septal defect, patent ductus arteriosus.

Eye syndrome

WAGR syndrome : autosomal dominant,
C/f: willms tumour with aniridia
Genetics: region on short arm of chr 11.
                  PAX6, WT1 genes

Cone rod dystrophy::
30 genes identified out of them 20 are AR.
ABC4 is most commonly involved.

Early infantile epileptic encephalopathy

also known as Otahara syndrome
onset: within the first 3 months of age.
description: tonic spasm, episodes lasting for 10 sec, may occur many times per day.
EEG: spasm coincides with the burst of high amplitude spikes and polyspikes.

may progress to
West syndrome: hypsarrhythmia, infantile spam, developmental delay
Dravet syndrome

7 genes, known