HOLOPROSENSEFALI

CASE REPORT

Andina Dwi Kurnia

Dyah Astrid Prameswari
Melfi Riqqah

SUPERVISOR : dr. Ismet, Sp.A

HOLOPROSENSEFALI

(HPE) is a complex brain malformation resulting from incomplete

cleavage of the prosencephalon, (the forebrain of the embryo) that
fails to develop into telencephalon and diencephalon

The forebrain is formed completely in the fifth weeks of human

pregnancy.

HPE has incidence rate of 1:250 inutero and 1:16.000 live

birth. In the Unites States, seemingly higher prevalences have
been reported in Hispanic, African-American and Pakistani
ethnicities.
STAGES OF BRAIN DEVELOPMENT

This is the period of maturation Cell multiplication occurs

of the central nervous system. during fetal life.
 ETIOLOGY
The etiology of HPE is extemely heterogenous and still being elucidated

Internal Factors External Factors

Genetics Infection
family history, chromosomal history of mother with TORCH infection
anomalies
Vascular
Metabolic
Hypoxemia
Maternal diabetes : infants born to
diabetic mothers have 200-fold risk of
HPE
CLASSIFICATION
CLASSIFICATION
Alobar Holoprosencephaly
Semilobar Holoprosencephaly
Lobar Holoprosencephaly
Middle interhemispheric fusion variant (MIHV)

 CLINICAL MANIFESTATIONS

Hydrocephalus
seizures,
oromotor dysfunction with risk of poor nutrition and aspiration
chronic lung disease
motor impairment
Disturbance of GIT
Hypothalamic dysfunction
Disturbed sleep-wake cycles and temperature dysregulation, as
well as endocrine dysfunction
Therapy

Non Surgical Therapy

Hormonal Therapy for hypothalamic dysfunction
Anti-epileptic medications to prevent seizures
Tube feeding in order to survive
Family support
Surgical Therapy
Surgical repair for infant with cleft lip
VP Shunt for HPE infant with hydrocephalus
Complications

Type 1 Diabetes
Electrolyte imbalance
Hyposmia/Anosmia
Seizures
Prognosis

Survival rates vary in each type of holoprosencephaly, but in general,

mortality correlates positively with the severity of the brain
malformation and, by extension, severity of the facial phenotype.

Those with severe facial anomalies such as cyclopia and proboscis

rarely survive the immediate postnatal period, while those with less
severe facial malformations can survive for months or, in a minority of
cases, longer than one year

Global delayed developmental may occur.

 SPINA BIFIDA

Definition

Congenital abnormality with developmental defect in the spinal column with

incomplete closure of vertebral canal due to failure in fusion of vertebral arches
protrusion and dysplasia of the spinal cord or its membranes.
ETIOLOGY OF SPINA BIFIDA

Multi-factorial inheritance.
Potato blight.
Vitamin deficiencies/folate.
Maternal fever.
Zinc deficiency.
High sound intensity.
Viral infection.
Alcohol.
Mineral deficiency.
Medication Phenytoin, Epilim, etc.
CLASSIFICATION
Spina Bifida Occulta
Types of Spina Bifida
Aperta/Cystica
Mildest form of spina bifida
The outer part of some of the vertebrae are not completely
The split in the vertebrae is so small that the spinal cord does not protrude
The condition is asymptomatic
Bony abnormality seen by X ray
Nerves may be involved when associated with hairy patch or other skin
changes

1- Meningeocele:
Meningeocele is covered by the outer layer of skin and the inner layer of
meninges which communicate with meninges lining the spinal subarachnoid
space
2- Myelomeningeocele
Sac contains neural elements that protrude through the spinal defects
PT EXAMINATION:
Inspection:
Tuft of hair, subcutaneous lipoma ordimple may be observed in occulta
Localised sac in cystic type, increased head size,
Deformity of Lower limb as flexion: Abd & int rotation of hip, flexion or
hyper extension knee, equinous or calcenous deformity of foot, scoliosis
or lordosis of spine
Skin ulceration and soft tissue injury due to pressure
Palpation:
Bony defect, subcutaneous lipoma, Loss of sensation and muscle bulk
Management
1. Prenatal
Triple screen
alfa fetoprotein (AFP),
USG
amniocentesis.
2. After birth :
Vertebral X- Ray
CT scan
Therapy
Simple closure (Myelomeningocele)
24 48 hours prevent meningitis
Closie defect with water-tight closure
Antibiotics
Pembedahan
Prenatal surgery
defect closure
VP shunt is needed to CSF drainage and decrease the intracranial
pressure.
Complication
Hyrocephalus on meningocele/myelomeningocele
Decubitus ulcer
Paralysis
Bone deformity
MEMORIES
ANALYSIS
LOREM IPSUM DOLOR SIT AMET
M ADE FROM MEMORIES
THANK YOU!
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