Craniotabes

Question 1

Craniotabes

Answer 1

Definition: Very soft skull bones at the Parieto-Occipital area

Question 2

Causes of Craniotabes

Answer 2

1. Prematurity - 1st 6 months of life
2. Bone diseases:
   Rickets
   Hypohosphatasia
   Osteogenesis imperfecta
   Hypervitaminosis A
3. Hydrocephalus
4. Congenital Syphilis

Question 3

Causes of delayed closure of Fontanelles

Answer 3

1. Bone diseases - Rickets, Hypohosphatasia, Achondronplasia; Craniocleidodysostosis
2. Increase ICP - Hydrocephalus / SOL
3. Metabolic disease (Hypothyroidism, MPS)
4. Congenital infections
5. Syndromes (Russel-Silver and Down’s / other Trisomies)

Question 4

Causes of bulging Anterior Fontanelles

Answer 4

Increased ICP
1. Small skull - cranial stenosis
2. Increased intracranial content (SOL; Hydrocephalus)
3. Meningitis; Encephalitis
4. Pseudotumor Cerebri
Idiopathic
Head injury
Venous thrombosis
Galatosaemia
Endocrine: Pregnancy; Hypoparathyroidism
Drugs: Steroid withdrawal; Vit A overdose; Antibiotics (Tetracycline, Nitrofurantoin); OC pills

Question 5

Steps to clinical examination of Craniotabes/ delayed closure/ bulging of anterior fontanelles

Answer 5

1. Examination of skull for ?Hydrocephalus/ Increase ICP
2. Note any Dysmorphism
3. Examination of neck for Goitre, limb and chest deformity, skin rash and abdomin for organomegaly
4. Look for evidence suggesting:
   Rickets: Swollen wrist and knee bowley; Rosary and Hypotonia
   Hypothyroidism
   Congenital infection
   Osteogenesis imperfecta

Question 6

Hypophosphatasia

Answer 6

AR
Heterozygous carrier state present
Pathogenesis: Inborn error of metabolism with ALP deficiency
Failure of mineralization of bone, abnormal metabolite present in urine (Phosphoeteanolamine)

Clinical features:

1. Stillbirth in severe cases
2. Skull - AF wideand tense with soft skull bone
3. Premature fusion of suture
4. Features of rickets
5. Premature loss of teeth

Investigation -ALP (Very low)
Rx - Calciferol (Vit D2)